[{"allele_string":"TTC/-","start":117559502,"assembly_name":"GRCh38","end":117559504,"seq_region_name":"7","id":"ENST00000003084:c.1431_1433delTTC","transcript_consequences":[{"consequence_terms":["inframe_deletion"],"protein_start":477,"gene_id":"ENSG00000001626","protein_end":478,"cdna_start":1501,"cdna_end":1503,"impact":"MODERATE","cds_start":1431,"amino_acids":"PS/P","cds_end":1433,"codons":"ccTTCa/cca","gene_symbol_source":"HGNC","biotype":"protein_coding","hgnc_id":"HGNC:1884","variant_allele":"-","transcript_id":"ENST00000003084","strand":1,"gene_symbol":"CFTR"},{"impact":"MODERATE","cds_start":1341,"gene_id":"ENSG00000001626","cdna_start":1341,"protein_end":448,"cdna_end":1343,"flags":["cds_end_NF"],"protein_start":447,"consequence_terms":["inframe_deletion"],"gene_symbol":"CFTR","hgnc_id":"HGNC:1884","transcript_id":"ENST00000426809","strand":1,"variant_allele":"-","amino_acids":"PS/P","cds_end":1343,"codons":"ccTTCa/cca","gene_symbol_source":"HGNC","biotype":"protein_coding"},{"hgnc_id":"HGNC:40144","gene_id":"ENSG00000232661","transcript_id":"ENST00000441019","strand":-1,"variant_allele":"-","distance":1229,"impact":"MODIFIER","gene_symbol":"CFTR-AS1","consequence_terms":["downstream_gene_variant"],"gene_symbol_source":"HGNC","biotype":"lncRNA"},{"gene_symbol":"CFTR","distance":134,"impact":"MODIFIER","variant_allele":"-","strand":1,"transcript_id":"ENST00000472848","hgnc_id":"HGNC:1884","gene_id":"ENSG00000001626","biotype":"protein_coding_CDS_not_defined","gene_symbol_source":"HGNC","consequence_terms":["upstream_gene_variant"]},{"amino_acids":"PS/P","cds_end":1433,"codons":"ccTTCa/cca","gene_symbol_source":"HGNC","biotype":"nonsense_mediated_decay","gene_symbol":"CFTR","hgnc_id":"HGNC:1884","strand":1,"transcript_id":"ENST00000647720","variant_allele":"-","protein_start":477,"consequence_terms":["inframe_deletion","NMD_transcript_variant"],"impact":"MODERATE","cds_start":1431,"gene_id":"ENSG00000001626","cdna_start":1538,"protein_end":478,"cdna_end":1540},{"impact":"MODIFIER","gene_symbol":"CFTR","hgnc_id":"HGNC:1884","gene_id":"ENSG00000001626","cdna_end":1408,"transcript_id":"ENST00000647978","variant_allele":"-","strand":1,"cdna_start":1406,"gene_symbol_source":"HGNC","biotype":"nonsense_mediated_decay","consequence_terms":["3_prime_UTR_variant","NMD_transcript_variant"]},{"variant_allele":"-","transcript_id":"ENST00000648260","strand":1,"hgnc_id":"HGNC:1884","gene_symbol":"CFTR","codons":"ccTTCa/cca","cds_end":1250,"amino_acids":"PS/P","biotype":"protein_coding","gene_symbol_source":"HGNC","protein_end":417,"cdna_start":1332,"cdna_end":1334,"gene_id":"ENSG00000001626","cds_start":1248,"impact":"MODERATE","consequence_terms":["inframe_deletion"],"protein_start":416},{"codons":"ccTTCa/cca","cds_end":1250,"amino_acids":"PS/P","biotype":"protein_coding","gene_symbol_source":"HGNC","hgnc_id":"HGNC:1884","variant_allele":"-","strand":1,"transcript_id":"ENST00000649406","gene_symbol":"CFTR","consequence_terms":["inframe_deletion"],"protein_start":416,"gene_id":"ENSG00000001626","cdna_start":1332,"protein_end":417,"cdna_end":1334,"impact":"MODERATE","cds_start":1248},{"cdna_start":1332,"protein_end":417,"cdna_end":1334,"gene_id":"ENSG00000001626","cds_start":1248,"impact":"MODERATE","consequence_terms":["inframe_deletion"],"protein_start":416,"transcript_id":"ENST00000649781","variant_allele":"-","strand":1,"hgnc_id":"HGNC:1884","gene_symbol":"CFTR","codons":"ccTTCa/cca","cds_end":1250,"amino_acids":"PS/P","gene_symbol_source":"HGNC","biotype":"protein_coding"},{"protein_start":477,"consequence_terms":["inframe_deletion","NMD_transcript_variant"],"impact":"MODERATE","cds_start":1431,"gene_id":"ENSG00000001626","protein_end":478,"cdna_start":1538,"cdna_end":1540,"cds_end":1433,"amino_acids":"PS/P","codons":"ccTTCa/cca","gene_symbol_source":"HGNC","biotype":"nonsense_mediated_decay","gene_symbol":"CFTR","hgnc_id":"HGNC:1884","variant_allele":"-","transcript_id":"ENST00000685018","strand":1},{"hgnc_id":"HGNC:1884","transcript_id":"ENST00000687278","variant_allele":"-","strand":1,"gene_symbol":"CFTR","gene_symbol_source":"HGNC","biotype":"nonsense_mediated_decay","cds_end":1433,"codons":"ccTTCa/cca","amino_acids":"PS/P","gene_id":"ENSG00000001626","cdna_end":1540,"cdna_start":1538,"protein_end":478,"impact":"MODERATE","cds_start":1431,"consequence_terms":["inframe_deletion","NMD_transcript_variant"],"protein_start":477},{"gene_symbol_source":"HGNC","biotype":"nonsense_mediated_decay","codons":"ccTTCa/cca","amino_acids":"PS/P","cds_end":1433,"hgnc_id":"HGNC:1884","variant_allele":"-","transcript_id":"ENST00000699585","strand":1,"gene_symbol":"CFTR","consequence_terms":["inframe_deletion","NMD_transcript_variant"],"protein_start":477,"gene_id":"ENSG00000001626","cdna_end":1540,"protein_end":478,"cdna_start":1538,"impact":"MODERATE","cds_start":1431},{"protein_start":477,"consequence_terms":["inframe_deletion"],"impact":"MODERATE","cds_start":1431,"gene_id":"ENSG00000001626","cdna_end":1540,"cdna_start":1538,"protein_end":478,"biotype":"protein_coding","gene_symbol_source":"HGNC","cds_end":1433,"amino_acids":"PS/P","codons":"ccTTCa/cca","gene_symbol":"CFTR","hgnc_id":"HGNC:1884","variant_allele":"-","transcript_id":"ENST00000699596","strand":1},{"amino_acids":"F/-","cds_end":1428,"codons":"TTC/-","gene_symbol_source":"HGNC","biotype":"protein_coding","variant_allele":"-","transcript_id":"ENST00000699597","strand":1,"hgnc_id":"HGNC:1884","gene_symbol":"CFTR","consequence_terms":["inframe_deletion"],"protein_start":476,"cdna_start":1533,"protein_end":476,"cdna_end":1535,"gene_id":"ENSG00000001626","cds_start":1426,"impact":"MODERATE"},{"consequence_terms":["inframe_deletion","NMD_transcript_variant"],"protein_start":477,"protein_end":478,"cdna_start":1538,"cdna_end":1540,"gene_id":"ENSG00000001626","cds_start":1431,"impact":"MODERATE","codons":"ccTTCa/cca","amino_acids":"PS/P","cds_end":1433,"gene_symbol_source":"HGNC","biotype":"nonsense_mediated_decay","variant_allele":"-","transcript_id":"ENST00000699598","strand":1,"hgnc_id":"HGNC:1884","gene_symbol":"CFTR"},{"gene_id":"ENSG00000001626","cdna_end":1540,"protein_end":478,"cdna_start":1538,"impact":"MODERATE","cds_start":1431,"consequence_terms":["inframe_deletion","NMD_transcript_variant"],"protein_start":477,"hgnc_id":"HGNC:1884","transcript_id":"ENST00000699599","variant_allele":"-","strand":1,"gene_symbol":"CFTR","biotype":"nonsense_mediated_decay","gene_symbol_source":"HGNC","codons":"ccTTCa/cca","cds_end":1433,"amino_acids":"PS/P"},{"gene_symbol_source":"HGNC","biotype":"nonsense_mediated_decay","codons":"ccTTCa/cca","cds_end":1433,"amino_acids":"PS/P","gene_symbol":"CFTR","hgnc_id":"HGNC:1884","variant_allele":"-","transcript_id":"ENST00000699600","strand":1,"protein_start":477,"consequence_terms":["inframe_deletion","NMD_transcript_variant"],"impact":"MODERATE","cds_start":1431,"gene_id":"ENSG00000001626","cdna_end":1540,"cdna_start":1538,"protein_end":478},{"consequence_terms":["inframe_deletion","NMD_transcript_variant"],"protein_start":477,"cdna_end":1540,"protein_end":478,"cdna_start":1538,"gene_id":"ENSG00000001626","cds_start":1431,"impact":"MODERATE","gene_symbol_source":"HGNC","biotype":"nonsense_mediated_decay","codons":"ccTTCa/cca","cds_end":1433,"amino_acids":"PS/P","transcript_id":"ENST00000699601","variant_allele":"-","strand":1,"hgnc_id":"HGNC:1884","gene_symbol":"CFTR"},{"consequence_terms":["inframe_deletion"],"protein_start":477,"cdna_end":1540,"protein_end":478,"cdna_start":1538,"gene_id":"ENSG00000001626","cds_start":1431,"impact":"MODERATE","biotype":"protein_coding","gene_symbol_source":"HGNC","codons":"ccTTCa/cca","cds_end":1433,"amino_acids":"PS/P","variant_allele":"-","transcript_id":"ENST00000699602","strand":1,"hgnc_id":"HGNC:1884","gene_symbol":"CFTR"},{"consequence_terms":["3_prime_UTR_variant","NMD_transcript_variant"],"gene_symbol_source":"HGNC","biotype":"nonsense_mediated_decay","gene_id":"ENSG00000001626","hgnc_id":"HGNC:1884","cdna_end":1515,"variant_allele":"-","cdna_start":1513,"transcript_id":"ENST00000699604","strand":1,"impact":"MODIFIER","gene_symbol":"CFTR"},{"amino_acids":"PS/P","cds_end":1007,"codons":"ccTTCa/cca","biotype":"protein_coding","gene_symbol_source":"HGNC","gene_symbol":"CFTR","hgnc_id":"HGNC:1884","transcript_id":"ENST00000699605","variant_allele":"-","strand":1,"protein_start":335,"consequence_terms":["inframe_deletion"],"impact":"MODERATE","cds_start":1005,"gene_id":"ENSG00000001626","protein_end":336,"cdna_start":1427,"cdna_end":1429},{"cdna_end":1548,"cdna_start":1546,"protein_end":478,"gene_id":"ENSG00000001626","cds_start":1431,"impact":"MODERATE","consequence_terms":["inframe_deletion"],"protein_start":477,"strand":1,"variant_allele":"-","transcript_id":"ENST00000889206","hgnc_id":"HGNC:1884","gene_symbol":"CFTR","biotype":"protein_coding","gene_symbol_source":"HGNC","cds_end":1433,"codons":"ccTTCa/cca","amino_acids":"PS/P"},{"protein_start":416,"consequence_terms":["inframe_deletion"],"cds_start":1248,"impact":"MODERATE","cdna_start":1346,"protein_end":417,"cdna_end":1348,"gene_id":"ENSG00000001626","amino_acids":"PS/P","cds_end":1250,"codons":"ccTTCa/cca","gene_symbol_source":"HGNC","biotype":"protein_coding","gene_symbol":"CFTR","strand":1,"variant_allele":"-","transcript_id":"ENST00000889207","hgnc_id":"HGNC:1884"},{"gene_id":"ENSG00000001626","cdna_end":1503,"protein_end":478,"cdna_start":1501,"impact":"MODERATE","cds_start":1431,"consequence_terms":["inframe_deletion"],"protein_start":477,"hgnc_id":"HGNC:1884","variant_allele":"-","strand":1,"transcript_id":"ENST00000889208","gene_symbol":"CFTR","biotype":"protein_coding","gene_symbol_source":"HGNC","amino_acids":"PS/P","codons":"ccTTCa/cca","cds_end":1433},{"consequence_terms":["inframe_deletion"],"protein_start":477,"cdna_start":1499,"protein_end":478,"cdna_end":1501,"gene_id":"ENSG00000001626","cds_start":1431,"impact":"MODERATE","codons":"ccTTCa/cca","amino_acids":"PS/P","cds_end":1433,"gene_symbol_source":"HGNC","biotype":"protein_coding","strand":1,"variant_allele":"-","transcript_id":"ENST00000889209","hgnc_id":"HGNC:1884","gene_symbol":"CFTR"},{"protein_start":416,"consequence_terms":["inframe_deletion"],"cds_start":1248,"impact":"MODERATE","cdna_end":1320,"cdna_start":1318,"protein_end":417,"gene_id":"ENSG00000001626","gene_symbol_source":"HGNC","biotype":"protein_coding","cds_end":1250,"amino_acids":"PS/P","codons":"ccTTCa/cca","gene_symbol":"CFTR","variant_allele":"-","transcript_id":"ENST00000889210","strand":1,"hgnc_id":"HGNC:1884"},{"gene_id":"ENSG00000001626","cdna_start":1567,"protein_end":478,"cdna_end":1569,"impact":"MODERATE","cds_start":1431,"consequence_terms":["inframe_deletion"],"protein_start":477,"hgnc_id":"HGNC:1884","transcript_id":"ENST00000950799","variant_allele":"-","strand":1,"gene_symbol":"CFTR","amino_acids":"PS/P","codons":"ccTTCa/cca","cds_end":1433,"gene_symbol_source":"HGNC","biotype":"protein_coding"}],"most_severe_consequence":"inframe_deletion","strand":1,"input":"ENST00000003084:c.1431_1433delTTC"}]