Canonical Allele Identifier: CA10602582
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 267567
ClinVar RCV Id: RCV000258199

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43067524_43070203del , CM000679.2:g.43067524_43070203del GRCh38
NC_000017.10:g.41219541_41222220del , CM000679.1:g.41219541_41222220del GRCh37
NC_000017.9:g.38473067_38475746del NCBI36
NG_005905.2:g.147781_150460del , LRG_292:g.147781_150460del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4983+725_5071+84del
ENST00000470026.6:c.4986+725_5074+84del
ENST00000473961.6:c.4860+725_4948+84del
ENST00000476777.6:c.4980+725_5068+84del
ENST00000477152.6:c.4908+725_4996+84del
ENST00000478531.6:c.1674+725_1762+84del
ENST00000489037.2:c.4908+725_4996+84del
ENST00000493919.6:c.1536+725_1624+84del
ENST00000494123.6:c.4986+725_5074+84del
ENST00000497488.2:c.4098+725_4186+84del
ENST00000618469.2:c.4986+725_5074+84del
ENST00000634433.2:c.4863+725_4951+84del
ENST00000644379.2:c.5052+725_5140+84del
ENST00000644555.2:c.1536+725_1624+84del
ENST00000652672.2:c.4845+725_4933+84del
ENST00000484087.6:c.1548+725_1636+84del
ENST00000357654.9:c.4986+725_5074+84del
ENST00000471181.7:c.5049+725_5137+84del
ENST00000644379.1:c.1373+725_1461+84del
ENST00000352993.7:c.1560+725_1648+84del
ENST00000357654.7:c.4986+725_5074+84del
ENST00000461221.5:c.*4769+725_*4857+84del
ENST00000468300.5:c.1674+725_1762+84del
ENST00000471181.6:c.5049+725_5137+84del
ENST00000472490.1:n.139+725_311del
ENST00000478531.5:c.1674+725_1762+84del
ENST00000484087.5:c.1299+725_1387+84del
ENST00000491747.6:c.1674+725_1762+84del
ENST00000493795.5:c.4845+725_4933+84del
ENST00000493919.5:c.1536+725_1624+84del
ENST00000586385.5:c.5-6252_5-3573del ENSP00000465818.1:n.5-6252_5-3573del
ENST00000591534.5:c.459+725_547+84del
ENST00000591849.5:c.-98-20013_-98-17334del ENSP00000465347.1:n.-98-20013_-98-17334de...
NM_007294.3:c.4986+725_5074+84del , LRG_292t1:c.4986+725_5074+84del
NM_007297.3:c.4845+725_4933+84del
NM_007298.3:c.1674+725_1762+84del
NM_007299.3:c.1674+725_1762+84del
NM_007300.3:c.5049+725_5137+84del
NR_027676.1:n.5122+725_5210+84del
NM_007294.4:c.4986+725_5074+84del
NM_007297.4:c.4845+725_4933+84del
NM_007299.4:c.1674+725_1762+84del
NM_007300.4:c.5049+725_5137+84del
NR_027676.2:n.5163+725_5251+84del