---
-
allele_string: CC/AA
assembly_name: GRCh38
end: 136507305
id: 9:g.136507304_136507305delCCinsAA
input: 9:g.136507304_136507305delCCinsAA
most_severe_consequence: splice_donor_variant
seq_region_name: 9
start: 136507304
strand: 1
transcript_consequences:
-
biotype: retained_intron
cdna_end: 1450
cdna_start: 1450
consequence_terms:
- splice_donor_variant
- non_coding_transcript_exon_variant
gene_id: ENSG00000148400
gene_symbol: NOTCH1
gene_symbol_source: HGNC
hgnc_id: HGNC:7881
hgvsc: ENST00000645828.1:n.1450_1450+1delinsTT
impact: HIGH
strand: -1
transcript_id: ENST00000645828
variant_allele: AA
-
biotype: retained_intron
consequence_terms:
- downstream_gene_variant
distance: 3205
gene_id: ENSG00000148400
gene_symbol: NOTCH1
gene_symbol_source: HGNC
hgnc_id: HGNC:7881
impact: MODIFIER
strand: -1
transcript_id: ENST00000646957
variant_allele: AA
-
biotype: protein_coding
canonical: 1
ccds: CCDS43905.1
cdna_end: 3905
cdna_start: 3905
cds_end: 3643
cds_start: 3643
consequence_terms:
- splice_donor_variant
- coding_sequence_variant
gene_id: ENSG00000148400
gene_symbol: NOTCH1
gene_symbol_source: HGNC
hgnc_id: HGNC:7881
hgvsc: ENST00000651671.1:c.3643_3643+1delinsTT
impact: HIGH
protein_end: 1215
protein_start: 1215
strand: -1
transcript_id: ENST00000651671
variant_allele: AA
-
biotype: nonsense_mediated_decay
cdna_end: 3905
cdna_start: 3905
cds_end: 3643
cds_start: 3643
consequence_terms:
- splice_donor_variant
- coding_sequence_variant
- NMD_transcript_variant
gene_id: ENSG00000148400
gene_symbol: NOTCH1
gene_symbol_source: HGNC
hgnc_id: HGNC:7881
hgvsc: ENST00000679595.1:c.3643_3643+1delinsTT
impact: HIGH
protein_end: 1215
protein_start: 1215
strand: -1
transcript_id: ENST00000679595
variant_allele: AA
-
biotype: retained_intron
consequence_terms:
- upstream_gene_variant
distance: 4460
gene_id: ENSG00000148400
gene_symbol: NOTCH1
gene_symbol_source: HGNC
hgnc_id: HGNC:7881
impact: MODIFIER
strand: -1
transcript_id: ENST00000679969
variant_allele: AA
-
biotype: retained_intron
consequence_terms:
- upstream_gene_variant
distance: 4609
gene_id: ENSG00000148400
gene_symbol: NOTCH1
gene_symbol_source: HGNC
hgnc_id: HGNC:7881
impact: MODIFIER
strand: -1
transcript_id: ENST00000680003
variant_allele: AA
-
biotype: protein_coding
cdna_end: 3740
cdna_start: 3740
cds_end: 3529
cds_start: 3529
consequence_terms:
- splice_donor_variant
- coding_sequence_variant
gene_id: ENSG00000148400
gene_symbol: NOTCH1
gene_symbol_source: HGNC
hgnc_id: HGNC:7881
hgvsc: ENST00000680133.1:c.3529_3529+1delinsTT
impact: HIGH
protein_end: 1177
protein_start: 1177
strand: -1
transcript_id: ENST00000680133
variant_allele: AA
-
biotype: protein_coding
cdna_end: 3905
cdna_start: 3905
cds_end: 3643
cds_start: 3643
consequence_terms:
- splice_donor_variant
- coding_sequence_variant
gene_id: ENSG00000148400
gene_symbol: NOTCH1
gene_symbol_source: HGNC
hgnc_id: HGNC:7881
hgvsc: ENST00000680218.1:c.3643_3643+1delinsTT
impact: HIGH
protein_end: 1215
protein_start: 1215
strand: -1
transcript_id: ENST00000680218
variant_allele: AA
-
biotype: protein_coding
cdna_end: 3791
cdna_start: 3791
cds_end: 3529
cds_start: 3529
consequence_terms:
- splice_donor_variant
- coding_sequence_variant
gene_id: ENSG00000148400
gene_symbol: NOTCH1
gene_symbol_source: HGNC
hgnc_id: HGNC:7881
hgvsc: ENST00000680668.1:c.3529_3529+1delinsTT
impact: HIGH
protein_end: 1177
protein_start: 1177
strand: -1
transcript_id: ENST00000680668
variant_allele: AA
-
biotype: protein_coding
cdna_end: 1332
cdna_start: 1332
cds_end: 1240
cds_start: 1240
consequence_terms:
- splice_donor_variant
- coding_sequence_variant
gene_id: ENSG00000148400
gene_symbol: NOTCH1
gene_symbol_source: HGNC
hgnc_id: HGNC:7881
hgvsc: ENST00000680778.1:c.1240_1240+1delinsTT
impact: HIGH
protein_end: 414
protein_start: 414
strand: -1
transcript_id: ENST00000680778
variant_allele: AA
-
biotype: retained_intron
consequence_terms:
- downstream_gene_variant
distance: 988
gene_id: ENSG00000148400
gene_symbol: NOTCH1
gene_symbol_source: HGNC
hgnc_id: HGNC:7881
impact: MODIFIER
strand: -1
transcript_id: ENST00000680882
variant_allele: AA
-
biotype: nonsense_mediated_decay
cdna_end: 3873
cdna_start: 3873
consequence_terms:
- splice_donor_variant
- 3_prime_UTR_variant
- NMD_transcript_variant
gene_id: ENSG00000148400
gene_symbol: NOTCH1
gene_symbol_source: HGNC
hgnc_id: HGNC:7881
hgvsc: ENST00000680924.1:c.*1043_*1043+1delinsTT
impact: HIGH
strand: -1
transcript_id: ENST00000680924
variant_allele: AA
-
biotype: nonsense_mediated_decay
cdna_end: 3986
cdna_start: 3986
consequence_terms:
- splice_donor_variant
- 3_prime_UTR_variant
- NMD_transcript_variant
gene_id: ENSG00000148400
gene_symbol: NOTCH1
gene_symbol_source: HGNC
hgnc_id: HGNC:7881
hgvsc: ENST00000681135.1:c.*1252_*1252+1delinsTT
impact: HIGH
strand: -1
transcript_id: ENST00000681135
variant_allele: AA
-
biotype: retained_intron
cdna_end: 456
cdna_start: 456
consequence_terms:
- splice_donor_variant
- non_coding_transcript_exon_variant
gene_id: ENSG00000148400
gene_symbol: NOTCH1
gene_symbol_source: HGNC
hgnc_id: HGNC:7881
hgvsc: ENST00000681298.1:n.456_456+1delinsTT
impact: HIGH
strand: -1
transcript_id: ENST00000681298
variant_allele: AA
-
biotype: nonsense_mediated_decay
cdna_end: 3303
cdna_start: 3303
consequence_terms:
- splice_donor_variant
- 3_prime_UTR_variant
- NMD_transcript_variant
gene_id: ENSG00000148400
gene_symbol: NOTCH1
gene_symbol_source: HGNC
hgnc_id: HGNC:7881
hgvsc: ENST00000681454.1:c.*2879_*2879+1delinsTT
impact: HIGH
strand: -1
transcript_id: ENST00000681454
variant_allele: AA