Canonical Allele Identifier: CA2695225928

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43090944_43090947del , CM000679.2:g.43090944_43090947del	GRCh38
NC_000017.10:g.41242961_41242964del , CM000679.1:g.41242961_41242964del	GRCh37
NC_000017.9:g.38496487_38496490del	NCBI36
NG_005905.2:g.127037_127040del , LRG_292:g.127037_127040del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4182_4185del	ENSP00000417241.2:p.Gln1395ArgfsTer9
ENST00000470026.6:c.4182_4185del	ENSP00000419274.2:p.Gln1395ArgfsTer9
ENST00000473961.6:c.4056_4059del	ENSP00000420201.2:p.Gln1353ArgfsTer9
ENST00000476777.6:c.4179_4182del	ENSP00000417554.2:p.Gln1394GlyfsTer8
ENST00000477152.6:c.4104_4107del	ENSP00000419988.2:p.Gln1369ArgfsTer9
ENST00000478531.6:c.870_873del	ENSP00000420412.2:p.Gln291ArgfsTer9
ENST00000489037.2:c.4104_4107del	ENSP00000420781.2:p.Gln1369ArgfsTer9
ENST00000493919.6:c.732_735del	ENSP00000418819.2:p.Gln245ArgfsTer9
ENST00000494123.6:c.4182_4185del	ENSP00000419103.2:p.Gln1395ArgfsTer9
ENST00000497488.2:c.3294_3297del	ENSP00000418986.2:p.Gln1099ArgfsTer9
ENST00000618469.2:c.4182_4185del	ENSP00000478114.2:p.Gln1395ArgfsTer9
ENST00000634433.2:c.4059_4062del	ENSP00000489431.2:p.Gln1354ArgfsTer9
ENST00000644379.2:c.4182_4185del	ENSP00000496570.2:p.Gln1395ArgfsTer9
ENST00000644555.2:c.732_735del	ENSP00000494614.2:p.Gln245ArgfsTer9
ENST00000652672.2:c.4041_4044del	ENSP00000498906.2:p.Gln1348ArgfsTer9
ENST00000484087.6:c.750_753del	ENSP00000419481.2:p.Gln251GlyfsTer8
ENST00000700182.1:c.792_795del	ENSP00000514849.1:p.Gln265ArgfsTer9
ENST00000357654.9:c.4182_4185del MANE Select	ENSP00000350283.3:p.Gln1395ArgfsTer9
ENST00000471181.7:c.4182_4185del	ENSP00000418960.2:p.Gln1395ArgfsTer9
ENST00000644379.1:c.503_506del
ENST00000352993.7:c.756_759del	ENSP00000312236.5:p.Gln253ArgfsTer9
ENST00000357654.7:c.4182_4185del	ENSP00000350283.3:p.Gln1395ArgfsTer9
ENST00000461221.5:c.*3965_*3968del	ENSP00000418548.1:n.*3965_*3968del
ENST00000461574.1:c.476_479del
ENST00000468300.5:c.873_876del	ENSP00000417148.1:p.Gln292ArgfsTer9
ENST00000471181.6:c.4182_4185del	ENSP00000418960.2:p.Gln1395ArgfsTer9
ENST00000478531.5:c.870_873del	ENSP00000420412.1:p.Gln291ArgfsTer9
ENST00000484087.5:c.495_498del	ENSP00000419481.1:p.Gln166ArgfsTer9
ENST00000487825.5:c.498_501del	ENSP00000418212.1:p.Gln167ArgfsTer9
ENST00000491747.6:c.873_876del	ENSP00000420705.2:p.Gln292ArgfsTer9
ENST00000493795.5:c.4041_4044del	ENSP00000418775.1:p.Gln1348ArgfsTer9
ENST00000493919.5:c.732_735del	ENSP00000418819.1:p.Gln245ArgfsTer9
ENST00000586385.5:c.5-26996_5-26993del	ENSP00000465818.1:n.5-26996_5-26993del
ENST00000591534.5:c.-43-16426_-43-16423del	ENSP00000467329.1:n.-43-16426_-43-16423del
ENST00000591849.5:c.-99+34324_-99+34327del	ENSP00000465347.1:n.-99+34324_-99+34327del
NM_007294.3:c.4182_4185del , LRG_292t1:c.4182_4185del	NP_009225.1:p.Gln1395ArgfsTer9
NM_007297.3:c.4041_4044del	NP_009228.2:p.Gln1348ArgfsTer9
NM_007298.3:c.873_876del	NP_009229.2:p.Gln292ArgfsTer9
NM_007299.3:c.873_876del	NP_009230.2:p.Gln292ArgfsTer9
NM_007300.3:c.4182_4185del	NP_009231.2:p.Gln1395ArgfsTer9
NR_027676.1:n.4318_4321del
NM_007294.4:c.4182_4185del MANE Select	NP_009225.1:p.Gln1395ArgfsTer9
NM_007297.4:c.4041_4044del	NP_009228.2:p.Gln1348ArgfsTer9
NM_007299.4:c.873_876del	NP_009230.2:p.Gln292ArgfsTer9
NM_007300.4:c.4182_4185del	NP_009231.2:p.Gln1395ArgfsTer9
NR_027676.2:n.4359_4362del