Canonical Allele Identifier: CA10602581
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 267566
ClinVar RCV Id: RCV000258432

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43064932_43070036del , CM000679.2:g.43064932_43070036del GRCh38
NC_000017.10:g.41216949_41222053del , CM000679.1:g.41216949_41222053del GRCh37
NC_000017.9:g.38470475_38475579del NCBI36
NG_005905.2:g.147948_153052del , LRG_292:g.147948_153052del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4983+892_5072-981del
ENST00000470026.6:c.4986+892_5075-981del
ENST00000473961.6:c.4860+892_4949-981del
ENST00000476777.6:c.4980+892_5069-981del
ENST00000477152.6:c.4908+892_4997-981del
ENST00000478531.6:c.1674+892_1763-981del
ENST00000489037.2:c.4908+892_4997-981del
ENST00000493919.6:c.1536+892_1625-981del
ENST00000494123.6:c.4986+892_5075-981del
ENST00000497488.2:c.4098+892_4187-981del
ENST00000618469.2:c.4986+892_5075-981del
ENST00000634433.2:c.4863+892_4952-981del
ENST00000644379.2:c.5052+892_5141-981del
ENST00000644555.2:c.1536+892_1625-981del
ENST00000652672.2:c.4845+892_4934-981del
ENST00000484087.6:c.1548+892_1637-981del
ENST00000357654.9:c.4986+892_5075-981del
ENST00000471181.7:c.5049+892_5138-981del
ENST00000644379.1:c.1373+892_1462-981del
ENST00000352993.7:c.1560+892_1649-981del
ENST00000357654.7:c.4986+892_5075-981del
ENST00000461221.5:c.*4769+892_*4858-981del
ENST00000468300.5:c.1674+892_1763-981del
ENST00000471181.6:c.5049+892_5138-981del
ENST00000478531.5:c.1674+892_1763-981del
ENST00000484087.5:c.1299+892_1388-981del
ENST00000491747.6:c.1674+892_1763-981del
ENST00000493795.5:c.4845+892_4934-981del
ENST00000493919.5:c.1536+892_1625-981del
ENST00000586385.5:c.5-6085_5-981del ENSP00000465818.1:n.5-6085_5-981del
ENST00000591534.5:c.459+892_548-981del
ENST00000591849.5:c.-98-19846_-98-14742del ENSP00000465347.1:n.-98-19846_-98-14742de...
NM_007294.3:c.4986+892_5075-981del , LRG_292t1:c.4986+892_5075-981del
NM_007297.3:c.4845+892_4934-981del
NM_007298.3:c.1674+892_1763-981del
NM_007299.3:c.1674+892_1763-981del
NM_007300.3:c.5049+892_5138-981del
NR_027676.1:n.5122+892_5211-981del
NM_007294.4:c.4986+892_5075-981del
NM_007297.4:c.4845+892_4934-981del
NM_007299.4:c.1674+892_1763-981del
NM_007300.4:c.5049+892_5138-981del
NR_027676.2:n.5163+892_5252-981del