Canonical Allele Identifier: CA1139665588

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 870639
• ClinVar RCV Id: RCV001090194
• dbSNP Id: rs2052734372

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076567dup , CM000679.2:g.43076567dup	GRCh38
NC_000017.10:g.41228584dup , CM000679.1:g.41228584dup	GRCh37
NC_000017.9:g.38482110dup	NCBI36
NG_005905.2:g.141418dup , LRG_292:g.141418dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4403dup	ENSP00000417241.2:p.Glu1469ArgfsTer6
ENST00000470026.6:c.4406dup	ENSP00000419274.2:p.Glu1470ArgfsTer6
ENST00000473961.6:c.4280dup	ENSP00000420201.2:p.Glu1428ArgfsTer6
ENST00000476777.6:c.4400dup	ENSP00000417554.2:p.Glu1468ArgfsTer6
ENST00000477152.6:c.4328dup	ENSP00000419988.2:p.Glu1444ArgfsTer6
ENST00000478531.6:c.1094dup	ENSP00000420412.2:p.Glu366ArgfsTer6
ENST00000489037.2:c.4328dup	ENSP00000420781.2:p.Glu1444ArgfsTer6
ENST00000493919.6:c.956dup	ENSP00000418819.2:p.Glu320ArgfsTer6
ENST00000494123.6:c.4406dup	ENSP00000419103.2:p.Glu1470ArgfsTer6
ENST00000497488.2:c.3518dup	ENSP00000418986.2:p.Glu1174ArgfsTer6
ENST00000618469.2:c.4406dup	ENSP00000478114.2:p.Glu1470ArgfsTer6
ENST00000634433.2:c.4283dup	ENSP00000489431.2:p.Glu1429ArgfsTer6
ENST00000644379.2:c.4472dup	ENSP00000496570.2:p.Glu1492ArgfsTer6
ENST00000644555.2:c.956dup	ENSP00000494614.2:p.Glu320ArgfsTer6
ENST00000652672.2:c.4265dup	ENSP00000498906.2:p.Glu1423ArgfsTer6
ENST00000484087.6:c.968dup	ENSP00000419481.2:p.Glu324ArgfsTer6
ENST00000700182.1:c.1013dup	ENSP00000514849.1:p.Glu339ArgfsTer6
ENST00000357654.9:c.4406dup MANE Select	ENSP00000350283.3:p.Glu1470ArgfsTer6
ENST00000471181.7:c.4469dup	ENSP00000418960.2:p.Glu1491ArgfsTer6
ENST00000644379.1:c.793dup
ENST00000352993.7:c.980dup	ENSP00000312236.5:p.Glu328ArgfsTer6
ENST00000357654.7:c.4406dup	ENSP00000350283.3:p.Glu1470ArgfsTer6
ENST00000461221.5:c.*4189dup	ENSP00000418548.1:n.*4189dup
ENST00000461574.1:c.697dup
ENST00000468300.5:c.1094dup	ENSP00000417148.1:p.Glu366ArgfsTer6
ENST00000471181.6:c.4469dup	ENSP00000418960.2:p.Glu1491ArgfsTer6
ENST00000478531.5:c.1094dup	ENSP00000420412.1:p.Glu366ArgfsTer6
ENST00000484087.5:c.719dup	ENSP00000419481.1:p.Glu241ArgfsTer6
ENST00000487825.5:c.722dup	ENSP00000418212.1:p.Glu242ArgfsTer6
ENST00000491747.6:c.1094dup	ENSP00000420705.2:p.Glu366ArgfsTer6
ENST00000493795.5:c.4265dup	ENSP00000418775.1:p.Glu1423ArgfsTer6
ENST00000493919.5:c.956dup	ENSP00000418819.1:p.Glu320ArgfsTer6
ENST00000586385.5:c.5-12615dup	ENSP00000465818.1:n.5-12615dup
ENST00000591534.5:c.-43-2045dup	ENSP00000467329.1:n.-43-2045dup
ENST00000591849.5:c.-98-26376dup	ENSP00000465347.1:n.-98-26376dup
ENST00000621897.1:n.297dup
NM_007294.3:c.4406dup , LRG_292t1:c.4406dup	NP_009225.1:p.Glu1470ArgfsTer6
NM_007297.3:c.4265dup	NP_009228.2:p.Glu1423ArgfsTer6
NM_007298.3:c.1094dup	NP_009229.2:p.Glu366ArgfsTer6
NM_007299.3:c.1094dup	NP_009230.2:p.Glu366ArgfsTer6
NM_007300.3:c.4469dup	NP_009231.2:p.Glu1491ArgfsTer6
NR_027676.1:n.4542dup
NM_007294.4:c.4406dup MANE Select	NP_009225.1:p.Glu1470ArgfsTer6
NM_007297.4:c.4265dup	NP_009228.2:p.Glu1423ArgfsTer6
NM_007299.4:c.1094dup	NP_009230.2:p.Glu366ArgfsTer6
NM_007300.4:c.4469dup	NP_009231.2:p.Glu1491ArgfsTer6
NR_027676.2:n.4583dup