Canonical Allele Identifier: CA003642
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 96952
dbSNP Id: rs80357757

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43045792_43045793dup , CM000679.2:g.43045792_43045793dup GRCh38
NC_000017.10:g.41197809_41197810dup , CM000679.1:g.41197809_41197810dup GRCh37
NC_000017.9:g.38451335_38451336dup NCBI36
NG_005905.2:g.172192_172193dup , LRG_292:g.172192_172193dup

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5475_5476dup ENSP00000417241.2:p.Met1826ArgfsTer8
ENST00000470026.6:c.5478_5479dup ENSP00000419274.2:p.Met1827ArgfsTer8
ENST00000473961.6:c.5352_5353dup ENSP00000420201.2:p.Met1785ArgfsTer8
ENST00000476777.6:c.5472_5473dup ENSP00000417554.2:p.Met1825ArgfsTer8
ENST00000477152.6:c.5400_5401dup ENSP00000419988.2:p.Met1801ArgfsTer8
ENST00000478531.6:c.2166_2167dup ENSP00000420412.2:p.Met723ArgfsTer8
ENST00000489037.2:c.5400_5401dup ENSP00000420781.2:p.Met1801ArgfsTer8
ENST00000493919.6:c.2028_2029dup ENSP00000418819.2:p.Met677ArgfsTer8
ENST00000494123.6:c.5478_5479dup ENSP00000419103.2:p.Met1827ArgfsTer8
ENST00000497488.2:c.4590_4591dup ENSP00000418986.2:p.Met1531ArgfsTer8
ENST00000618469.2:c.5478_5479dup ENSP00000478114.2:p.Met1827ArgfsTer8
ENST00000634433.2:c.5355_5356dup ENSP00000489431.2:p.Met1786ArgfsTer8
ENST00000644379.2:c.5544_5545dup ENSP00000496570.2:p.Met1849ArgfsTer8
ENST00000644555.2:c.2028_2029dup ENSP00000494614.2:p.Met677ArgfsTer8
ENST00000652672.2:c.5337_5338dup ENSP00000498906.2:p.Met1780ArgfsTer8
ENST00000484087.6:c.2040_2041dup ENSP00000419481.2:p.Met681ArgfsTer8
ENST00000700081.1:n.1361_1362dup
ENST00000700082.1:n.842_843dup
ENST00000357654.9:c.5478_5479dup MANE Select ENSP00000350283.3:p.Met1827ArgfsTer8
ENST00000471181.7:c.5541_5542dup ENSP00000418960.2:p.Met1848ArgfsTer8
ENST00000644379.1:c.1865_1866dup
ENST00000352993.7:c.2052_2053dup ENSP00000312236.5:p.Met685ArgfsTer8
ENST00000357654.7:c.5478_5479dup ENSP00000350283.3:p.Met1827ArgfsTer8
ENST00000461221.5:c.*5261_*5262dup ENSP00000418548.1:n.*5261_*5262dup
ENST00000468300.5:c.2092_2093dup ENSP00000417148.1:p.Asp698GlufsTer?
ENST00000471181.6:c.5541_5542dup ENSP00000418960.2:p.Met1848ArgfsTer8
ENST00000491747.6:c.2166_2167dup ENSP00000420705.2:p.Met723ArgfsTer8
ENST00000493795.5:c.5337_5338dup ENSP00000418775.1:p.Met1780ArgfsTer8
ENST00000586385.5:c.408_409dup ENSP00000465818.1:p.Met137ArgfsTer8
ENST00000591534.5:c.951_952dup ENSP00000467329.1:p.Met318ArgfsTer8
ENST00000591849.5:c.177_178dup ENSP00000465347.1:p.Met60ArgfsTer8
NM_007294.3:c.5478_5479dup , LRG_292t1:c.5478_5479dup NP_009225.1:p.Met1827ArgfsTer8
NM_007297.3:c.5337_5338dup NP_009228.2:p.Met1780ArgfsTer8
NM_007298.3:c.2166_2167dup NP_009229.2:p.Met723ArgfsTer8
NM_007299.3:c.2092_2093dup NP_009230.2:p.Asp698GlufsTer?
NM_007300.3:c.5541_5542dup NP_009231.2:p.Met1848ArgfsTer8
NR_027676.1:n.5614_5615dup
NM_007294.4:c.5478_5479dup MANE Select NP_009225.1:p.Met1827ArgfsTer8
NM_007297.4:c.5337_5338dup NP_009228.2:p.Met1780ArgfsTer8
NM_007299.4:c.2092_2093dup NP_009230.2:p.Asp698GlufsTer?
NM_007300.4:c.5541_5542dup NP_009231.2:p.Met1848ArgfsTer8
NR_027676.2:n.5655_5656dup