Canonical Allele Identifier: CA268394
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 125837
ClinVar RCV Id: RCV000112634
dbSNP Id: rs273901765

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43049119del , CM000679.2:g.43049119del GRCh38
NC_000017.10:g.41201136del , CM000679.1:g.41201136del GRCh37
NC_000017.9:g.38454662del NCBI36
NG_005905.2:g.168865del , LRG_292:g.168865del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5403+2del ENSP00000417241.2:n.5403+2del
ENST00000470026.6:c.5406+2del ENSP00000419274.2:n.5406+2del
ENST00000473961.6:c.5280+2del ENSP00000420201.2:n.5280+2del
ENST00000476777.6:c.5400+2del ENSP00000417554.2:n.5400+2del
ENST00000477152.6:c.5328+2del ENSP00000419988.2:n.5328+2del
ENST00000478531.6:c.2094+2del ENSP00000420412.2:n.2094+2del
ENST00000489037.2:c.5328+2del ENSP00000420781.2:n.5328+2del
ENST00000493919.6:c.1956+2del ENSP00000418819.2:n.1956+2del
ENST00000494123.6:c.5406+2del ENSP00000419103.2:n.5406+2del
ENST00000497488.2:c.4518+2del ENSP00000418986.2:n.4518+2del
ENST00000618469.2:c.5406+2del ENSP00000478114.2:n.5406+2del
ENST00000634433.2:c.5283+2del ENSP00000489431.2:n.5283+2del
ENST00000644379.2:c.5472+2del ENSP00000496570.2:n.5472+2del
ENST00000644555.2:c.1956+2del ENSP00000494614.2:n.1956+2del
ENST00000652672.2:c.5265+2del ENSP00000498906.2:n.5265+2del
ENST00000484087.6:c.1968+2del ENSP00000419481.2:n.1968+2del
ENST00000700081.1:n.1289+2del
ENST00000357654.9:c.5406+2del MANE Select ENSP00000350283.3:n.5406+2del
ENST00000471181.7:c.5469+2del ENSP00000418960.2:n.5469+2del
ENST00000644379.1:c.1793+2del
ENST00000352993.7:c.1980+2del ENSP00000312236.5:n.1980+2del
ENST00000357654.7:c.5406+2del ENSP00000350283.3:n.5406+2del
ENST00000461221.5:c.*5189+2del ENSP00000418548.1:n.*5189+2del
ENST00000468300.5:c.2021-1416del ENSP00000417148.1:n.2021-1416del
ENST00000471181.6:c.5469+2del ENSP00000418960.2:n.5469+2del
ENST00000491747.6:c.2094+2del ENSP00000420705.2:n.2094+2del
ENST00000493795.5:c.5265+2del ENSP00000418775.1:n.5265+2del
ENST00000586385.5:c.336+2del ENSP00000465818.1:n.336+2del
ENST00000591534.5:c.879+2del ENSP00000467329.1:n.879+2del
ENST00000591849.5:c.105+2del ENSP00000465347.1:n.105+2del
NM_007294.3:c.5406+2del , LRG_292t1:c.5406+2del NP_009225.1:n.5406+2del
NM_007297.3:c.5265+2del NP_009228.2:n.5265+2del
NM_007298.3:c.2094+2del NP_009229.2:n.2094+2del
NM_007299.3:c.2021-1416del NP_009230.2:n.2021-1416del
NM_007300.3:c.5469+2del NP_009231.2:n.5469+2del
NR_027676.1:n.5542+2del
NM_007294.4:c.5406+2del MANE Select NP_009225.1:n.5406+2del
NM_007297.4:c.5265+2del NP_009228.2:n.5265+2del
NM_007299.4:c.2021-1416del NP_009230.2:n.2021-1416del
NM_007300.4:c.5469+2del NP_009231.2:n.5469+2del
NR_027676.2:n.5583+2del