Canonical Allele Identifier: CA327913

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43090965_43090966dup , CM000679.2:g.43090965_43090966dup	GRCh38
NC_000017.10:g.41242982_41242983dup , CM000679.1:g.41242982_41242983dup	GRCh37
NC_000017.9:g.38496508_38496509dup	NCBI36
NG_005905.2:g.127020_127021dup , LRG_292:g.127020_127021dup

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4165_4166dup MANE Select	NP_009225.1:p.Ser1389ArgfsTer5
ENST00000357654.9:c.4165_4166dup MANE Select	ENSP00000350283.3:p.Ser1389ArgfsTer5
NM_007294.3:c.4165_4166dup , LRG_292t1:c.4165_4166dup	NP_009225.1:p.Ser1389ArgfsTer5
NM_007297.3:c.4024_4025dup	NP_009228.2:p.Ser1342ArgfsTer5
NM_007297.4:c.4024_4025dup	NP_009228.2:p.Ser1342ArgfsTer5
NM_007298.3:c.856_857dup	NP_009229.2:p.Ser286ArgfsTer5
NM_007299.3:c.856_857dup	NP_009230.2:p.Ser286ArgfsTer5
NM_007299.4:c.856_857dup	NP_009230.2:p.Ser286ArgfsTer5
NM_007300.3:c.4165_4166dup	NP_009231.2:p.Ser1389ArgfsTer5
NM_007300.4:c.4165_4166dup	NP_009231.2:p.Ser1389ArgfsTer5
NR_027676.1:n.4301_4302dup
NR_027676.2:n.4342_4343dup
ENST00000352993.7:c.739_740dup	ENSP00000312236.5:p.Ser247ArgfsTer5
ENST00000357654.7:c.4165_4166dup	ENSP00000350283.3:p.Ser1389ArgfsTer5
ENST00000461221.5:c.*3948_*3949dup	ENSP00000418548.1:n.*3948_*3949dup
ENST00000461574.1:c.459_460dup
ENST00000461574.2:c.4165_4166dup	ENSP00000417241.2:p.Ser1389ArgfsTer5
ENST00000468300.5:c.856_857dup	ENSP00000417148.1:p.Ser286ArgfsTer5
ENST00000470026.6:c.4165_4166dup	ENSP00000419274.2:p.Ser1389ArgfsTer5
ENST00000471181.6:c.4165_4166dup	ENSP00000418960.2:p.Ser1389ArgfsTer5
ENST00000471181.7:c.4165_4166dup	ENSP00000418960.2:p.Ser1389ArgfsTer5
ENST00000473961.6:c.4039_4040dup	ENSP00000420201.2:p.Ser1347ArgfsTer5
ENST00000476777.6:c.4162_4163dup	ENSP00000417554.2:p.Ser1388ArgfsTer5
ENST00000477152.6:c.4087_4088dup	ENSP00000419988.2:p.Ser1363ArgfsTer5
ENST00000478531.5:c.853_854dup	ENSP00000420412.1:p.Ser285ArgfsTer5
ENST00000478531.6:c.853_854dup	ENSP00000420412.2:p.Ser285ArgfsTer5
ENST00000484087.5:c.478_479dup	ENSP00000419481.1:p.Ser160ArgfsTer5
ENST00000484087.6:c.733_734dup	ENSP00000419481.2:p.Ser245ArgfsTer5
ENST00000487825.5:c.481_482dup	ENSP00000418212.1:p.Ser161ArgfsTer5
ENST00000489037.2:c.4087_4088dup	ENSP00000420781.2:p.Ser1363ArgfsTer5
ENST00000491747.6:c.856_857dup	ENSP00000420705.2:p.Ser286ArgfsTer5
ENST00000493795.5:c.4024_4025dup	ENSP00000418775.1:p.Ser1342ArgfsTer5
ENST00000493919.5:c.715_716dup	ENSP00000418819.1:p.Ser239ArgfsTer5
ENST00000493919.6:c.715_716dup	ENSP00000418819.2:p.Ser239ArgfsTer5
ENST00000494123.6:c.4165_4166dup	ENSP00000419103.2:p.Ser1389ArgfsTer5
ENST00000497488.2:c.3277_3278dup	ENSP00000418986.2:p.Ser1093ArgfsTer5
ENST00000586385.5:c.5-27013_5-27012dup	ENSP00000465818.1:n.5-27013_5-27012dup
ENST00000591534.5:c.-43-16443_-43-16442dup	ENSP00000467329.1:n.-43-16443_-43-16442dup
ENST00000591849.5:c.-99+34307_-99+34308dup	ENSP00000465347.1:n.-99+34307_-99+34308dup
ENST00000618469.2:c.4165_4166dup	ENSP00000478114.2:p.Ser1389ArgfsTer5
ENST00000634433.2:c.4042_4043dup	ENSP00000489431.2:p.Ser1348ArgfsTer5
ENST00000644379.1:c.486_487dup
ENST00000644379.2:c.4165_4166dup	ENSP00000496570.2:p.Ser1389ArgfsTer5
ENST00000644555.2:c.715_716dup	ENSP00000494614.2:p.Ser239ArgfsTer5
ENST00000652672.2:c.4024_4025dup	ENSP00000498906.2:p.Ser1342ArgfsTer5
ENST00000700182.1:c.775_776dup	ENSP00000514849.1:p.Ser259ArgfsTer5