Canonical Allele Identifier: CA2580093930
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1713202
ClinVar RCV Id: RCV003155997

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43046632_43048750del , CM000679.2:g.43046632_43048750del GRCh38
NC_000017.10:g.41198649_41200767del , CM000679.1:g.41198649_41200767del GRCh37
NC_000017.9:g.38452175_38454293del NCBI36
NG_005905.2:g.169261_171379del , LRG_292:g.169261_171379del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5403+398_5465-803del
ENST00000470026.6:c.5406+398_5468-803del
ENST00000473961.6:c.5280+398_5342-803del
ENST00000476777.6:c.5400+398_5462-803del
ENST00000477152.6:c.5328+398_5390-803del
ENST00000478531.6:c.2094+398_2156-803del
ENST00000489037.2:c.5328+398_5390-803del
ENST00000493919.6:c.1956+398_2018-803del
ENST00000494123.6:c.5406+398_5468-803del
ENST00000497488.2:c.4518+398_4580-803del
ENST00000618469.2:c.5406+398_5468-803del
ENST00000634433.2:c.5283+398_5345-803del
ENST00000644379.2:c.5472+398_5534-803del
ENST00000644555.2:c.1956+398_2018-803del
ENST00000652672.2:c.5265+398_5327-803del
ENST00000484087.6:c.1968+398_2030-803del
ENST00000700081.1:n.1289+398_1351-803del
ENST00000357654.9:c.5406+398_5468-803del
ENST00000471181.7:c.5469+398_5531-803del
ENST00000644379.1:c.1793+398_1855-803del
ENST00000352993.7:c.1980+398_2042-803del
ENST00000357654.7:c.5406+398_5468-803del
ENST00000461221.5:c.*5189+398_*5251-803del
ENST00000468300.5:c.2021-1020_2082-803del
ENST00000471181.6:c.5469+398_5531-803del
ENST00000491747.6:c.2094+398_2156-803del
ENST00000493795.5:c.5265+398_5327-803del
ENST00000586385.5:c.336+398_398-803del
ENST00000591534.5:c.879+398_941-803del
ENST00000591849.5:c.105+398_167-803del
NM_007294.3:c.5406+398_5468-803del , LRG_292t1:c.5406+398_5468-803del
NM_007297.3:c.5265+398_5327-803del
NM_007298.3:c.2094+398_2156-803del
NM_007299.3:c.2021-1020_2082-803del
NM_007300.3:c.5469+398_5531-803del
NR_027676.1:n.5542+398_5604-803del
NM_007294.4:c.5406+398_5468-803del
NM_007297.4:c.5265+398_5327-803del
NM_007299.4:c.2021-1020_2082-803del
NM_007300.4:c.5469+398_5531-803del
NR_027676.2:n.5583+398_5645-803del