Canonical Allele Identifier: CA2499224420

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1285555
• ClinVar RCV Id: RCV001706912
• dbSNP Id: rs1567782959

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082409dup , CM000679.2:g.43082409dup	GRCh38
NC_000017.10:g.41234426dup , CM000679.1:g.41234426dup	GRCh37
NC_000017.9:g.38487952dup	NCBI36
NG_005905.2:g.135579dup , LRG_292:g.135579dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4356dup	ENSP00000417241.2:p.Val1453SerfsTer8
ENST00000470026.6:c.4356dup	ENSP00000419274.2:p.Ala1453SerfsTer9
ENST00000473961.6:c.4230dup	ENSP00000420201.2:p.Ala1411SerfsTer9
ENST00000476777.6:c.4350dup	ENSP00000417554.2:p.Ala1451SerfsTer9
ENST00000477152.6:c.4278dup	ENSP00000419988.2:p.Ala1427SerfsTer9
ENST00000478531.6:c.1044dup	ENSP00000420412.2:p.Ala349SerfsTer9
ENST00000489037.2:c.4278dup	ENSP00000420781.2:p.Ala1427SerfsTer9
ENST00000493919.6:c.906dup	ENSP00000418819.2:p.Ala303SerfsTer9
ENST00000494123.6:c.4356dup	ENSP00000419103.2:p.Ala1453SerfsTer9
ENST00000497488.2:c.3468dup	ENSP00000418986.2:p.Ala1157SerfsTer9
ENST00000618469.2:c.4356dup	ENSP00000478114.2:p.Ala1453SerfsTer9
ENST00000634433.2:c.4233dup	ENSP00000489431.2:p.Ala1412SerfsTer9
ENST00000644379.2:c.4356dup	ENSP00000496570.2:p.Asp1453ArgfsTer15
ENST00000644555.2:c.906dup	ENSP00000494614.2:p.Ala303SerfsTer9
ENST00000652672.2:c.4215dup	ENSP00000498906.2:p.Ala1406SerfsTer9
ENST00000484087.6:c.921dup	ENSP00000419481.2:p.Val308SerfsTer8
ENST00000700182.1:c.966dup	ENSP00000514849.1:p.Val323SerfsTer8
ENST00000357654.9:c.4356dup MANE Select	ENSP00000350283.3:p.Ala1453SerfsTer9
ENST00000471181.7:c.4356dup	ENSP00000418960.2:p.Asp1453ArgfsTer15
ENST00000644379.1:c.677dup
ENST00000352993.7:c.930dup	ENSP00000312236.5:p.Ala311SerfsTer9
ENST00000357654.7:c.4356dup	ENSP00000350283.3:p.Ala1453SerfsTer9
ENST00000461221.5:c.*4139dup	ENSP00000418548.1:n.*4139dup
ENST00000461574.1:c.650dup
ENST00000468300.5:c.1047dup	ENSP00000417148.1:p.Val350SerfsTer8
ENST00000471181.6:c.4356dup	ENSP00000418960.2:p.Asp1453ArgfsTer15
ENST00000478531.5:c.1044dup	ENSP00000420412.1:p.Ala349SerfsTer9
ENST00000484087.5:c.669dup	ENSP00000419481.1:p.Ala224SerfsTer9
ENST00000487825.5:c.672dup	ENSP00000418212.1:p.Ala225SerfsTer9
ENST00000491747.6:c.1047dup	ENSP00000420705.2:p.Val350SerfsTer8
ENST00000493795.5:c.4215dup	ENSP00000418775.1:p.Ala1406SerfsTer9
ENST00000493919.5:c.906dup	ENSP00000418819.1:p.Ala303SerfsTer9
ENST00000586385.5:c.5-18454dup	ENSP00000465818.1:n.5-18454dup
ENST00000591534.5:c.-43-7884dup	ENSP00000467329.1:n.-43-7884dup
ENST00000591849.5:c.-98-32215dup	ENSP00000465347.1:n.-98-32215dup
ENST00000621897.1:n.250dup
NM_007294.3:c.4356dup , LRG_292t1:c.4356dup	NP_009225.1:p.Ala1453SerfsTer9
NM_007297.3:c.4215dup	NP_009228.2:p.Ala1406SerfsTer9
NM_007298.3:c.1047dup	NP_009229.2:p.Val350SerfsTer8
NM_007299.3:c.1047dup	NP_009230.2:p.Val350SerfsTer8
NM_007300.3:c.4356dup	NP_009231.2:p.Asp1453ArgfsTer15
NR_027676.1:n.4492dup
NM_007294.4:c.4356dup MANE Select	NP_009225.1:p.Ala1453SerfsTer9
NM_007297.4:c.4215dup	NP_009228.2:p.Ala1406SerfsTer9
NM_007299.4:c.1047dup	NP_009230.2:p.Val350SerfsTer8
NM_007300.4:c.4356dup	NP_009231.2:p.Asp1453ArgfsTer15
NR_027676.2:n.4533dup