Canonical Allele Identifier: CA2695225923

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076543dup , CM000679.2:g.43076543dup	GRCh38
NC_000017.10:g.41228560dup , CM000679.1:g.41228560dup	GRCh37
NC_000017.9:g.38482086dup	NCBI36
NG_005905.2:g.141443dup , LRG_292:g.141443dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4428dup	ENSP00000417241.2:p.Glu1477Ter
ENST00000470026.6:c.4431dup	ENSP00000419274.2:p.Glu1478Ter
ENST00000473961.6:c.4305dup	ENSP00000420201.2:p.Glu1436Ter
ENST00000476777.6:c.4425dup	ENSP00000417554.2:p.Glu1476Ter
ENST00000477152.6:c.4353dup	ENSP00000419988.2:p.Glu1452Ter
ENST00000478531.6:c.1119dup	ENSP00000420412.2:p.Glu374Ter
ENST00000489037.2:c.4353dup	ENSP00000420781.2:p.Glu1452Ter
ENST00000493919.6:c.981dup	ENSP00000418819.2:p.Glu328Ter
ENST00000494123.6:c.4431dup	ENSP00000419103.2:p.Glu1478Ter
ENST00000497488.2:c.3543dup	ENSP00000418986.2:p.Glu1182Ter
ENST00000618469.2:c.4431dup	ENSP00000478114.2:p.Glu1478Ter
ENST00000634433.2:c.4308dup	ENSP00000489431.2:p.Glu1437Ter
ENST00000644379.2:c.4497dup	ENSP00000496570.2:p.Glu1500Ter
ENST00000644555.2:c.981dup	ENSP00000494614.2:p.Glu328Ter
ENST00000652672.2:c.4290dup	ENSP00000498906.2:p.Glu1431Ter
ENST00000484087.6:c.993dup	ENSP00000419481.2:p.Glu332Ter
ENST00000700182.1:c.1038dup	ENSP00000514849.1:p.Glu347Ter
ENST00000357654.9:c.4431dup MANE Select	ENSP00000350283.3:p.Glu1478Ter
ENST00000471181.7:c.4494dup	ENSP00000418960.2:p.Glu1499Ter
ENST00000644379.1:c.818dup
ENST00000352993.7:c.1005dup	ENSP00000312236.5:p.Glu336Ter
ENST00000357654.7:c.4431dup	ENSP00000350283.3:p.Glu1478Ter
ENST00000461221.5:c.*4214dup	ENSP00000418548.1:n.*4214dup
ENST00000461574.1:c.722dup
ENST00000468300.5:c.1119dup	ENSP00000417148.1:p.Glu374Ter
ENST00000471181.6:c.4494dup	ENSP00000418960.2:p.Glu1499Ter
ENST00000478531.5:c.1119dup	ENSP00000420412.1:p.Glu374Ter
ENST00000484087.5:c.744dup	ENSP00000419481.1:p.Glu249Ter
ENST00000487825.5:c.747dup	ENSP00000418212.1:p.Glu250Ter
ENST00000491747.6:c.1119dup	ENSP00000420705.2:p.Glu374Ter
ENST00000493795.5:c.4290dup	ENSP00000418775.1:p.Glu1431Ter
ENST00000493919.5:c.981dup	ENSP00000418819.1:p.Glu328Ter
ENST00000586385.5:c.5-12590dup	ENSP00000465818.1:n.5-12590dup
ENST00000591534.5:c.-43-2020dup	ENSP00000467329.1:n.-43-2020dup
ENST00000591849.5:c.-98-26351dup	ENSP00000465347.1:n.-98-26351dup
ENST00000621897.1:n.322dup
NM_007294.3:c.4431dup , LRG_292t1:c.4431dup	NP_009225.1:p.Glu1478Ter
NM_007297.3:c.4290dup	NP_009228.2:p.Glu1431Ter
NM_007298.3:c.1119dup	NP_009229.2:p.Glu374Ter
NM_007299.3:c.1119dup	NP_009230.2:p.Glu374Ter
NM_007300.3:c.4494dup	NP_009231.2:p.Glu1499Ter
NR_027676.1:n.4567dup
NM_007294.4:c.4431dup MANE Select	NP_009225.1:p.Glu1478Ter
NM_007297.4:c.4290dup	NP_009228.2:p.Glu1431Ter
NM_007299.4:c.1119dup	NP_009230.2:p.Glu374Ter
NM_007300.4:c.4494dup	NP_009231.2:p.Glu1499Ter
NR_027676.2:n.4608dup