Canonical Allele Identifier: CA16618804
Gene: NOTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 422753
ClinVar RCV Id: RCV000486605
dbSNP Id: rs1064795976
MyVariant Identifiers: chr9:g.139409146del (hg19) chr9:g.136514694del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136514694del , CM000671.2:g.136514694del GRCh38
NC_000009.11:g.139409146del , CM000671.1:g.139409146del GRCh37
NC_000009.10:g.138528967del NCBI36
NG_007458.1:g.36093del

Transcript Alleles

HGVS Amino-acid change
ENST00000651671.1:c.2023del MANE Select ENSP00000498587.1:p.Cys675ValfsTer?
ENST00000679595.1:c.2023del ENSP00000506241.1:p.Cys675ValfsTer?
ENST00000680133.1:c.1909del ENSP00000505319.1:p.Cys637ValfsTer?
ENST00000680218.1:c.2023del ENSP00000505339.1:p.Cys675ValfsTer?
ENST00000680668.1:c.1909del ENSP00000506336.1:p.Cys637ValfsTer?
ENST00000680924.1:c.2023del ENSP00000506031.1:p.Cys675ValfsTer?
ENST00000681135.1:c.2023del ENSP00000506636.1:p.Cys675ValfsTer?
ENST00000681454.1:c.*1259del ENSP00000505763.1:n.*1259del
ENST00000277541.6:c.2023del ENSP00000277541.6:p.Cys675ValfsTer?
NM_017617.3:c.2023del NP_060087.3:p.Cys675ValfsTer?
XM_011518717.1:c.1324del XP_011517019.1:p.Cys442ValfsTer?
NM_017617.5:c.2023del MANE Select NP_060087.3:p.Cys675ValfsTer?
XM_011518717.2:c.1300del XP_011517019.2:p.Cys434ValfsTer?
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