Canonical Allele Identifier: CA2580094041

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2102633
• ClinVar RCV Id: RCV003019608

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091013dup , CM000679.2:g.43091013dup	GRCh38
NC_000017.10:g.41243030dup , CM000679.1:g.41243030dup	GRCh37
NC_000017.9:g.38496556dup	NCBI36
NG_005905.2:g.126971dup , LRG_292:g.126971dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4116dup	ENSP00000417241.2:p.Glu1373Ter
ENST00000470026.6:c.4116dup	ENSP00000419274.2:p.Glu1373Ter
ENST00000473961.6:c.3990dup	ENSP00000420201.2:p.Glu1331Ter
ENST00000476777.6:c.4113dup	ENSP00000417554.2:p.Glu1372Ter
ENST00000477152.6:c.4038dup	ENSP00000419988.2:p.Glu1347Ter
ENST00000478531.6:c.804dup	ENSP00000420412.2:p.Glu269Ter
ENST00000489037.2:c.4038dup	ENSP00000420781.2:p.Glu1347Ter
ENST00000493919.6:c.666dup	ENSP00000418819.2:p.Glu223Ter
ENST00000494123.6:c.4116dup	ENSP00000419103.2:p.Glu1373Ter
ENST00000497488.2:c.3228dup	ENSP00000418986.2:p.Glu1077Ter
ENST00000618469.2:c.4116dup	ENSP00000478114.2:p.Glu1373Ter
ENST00000634433.2:c.3993dup	ENSP00000489431.2:p.Glu1332Ter
ENST00000644379.2:c.4116dup	ENSP00000496570.2:p.Glu1373Ter
ENST00000644555.2:c.666dup	ENSP00000494614.2:p.Glu223Ter
ENST00000652672.2:c.3975dup	ENSP00000498906.2:p.Glu1326Ter
ENST00000484087.6:c.684dup	ENSP00000419481.2:p.Glu229Ter
ENST00000700182.1:c.726dup	ENSP00000514849.1:p.Glu243Ter
ENST00000357654.9:c.4116dup MANE Select	ENSP00000350283.3:p.Glu1373Ter
ENST00000471181.7:c.4116dup	ENSP00000418960.2:p.Glu1373Ter
ENST00000644379.1:c.437dup
ENST00000352993.7:c.690dup	ENSP00000312236.5:p.Glu231Ter
ENST00000357654.7:c.4116dup	ENSP00000350283.3:p.Glu1373Ter
ENST00000461221.5:c.*3899dup	ENSP00000418548.1:n.*3899dup
ENST00000461574.1:c.410dup
ENST00000468300.5:c.807dup	ENSP00000417148.1:p.Glu270Ter
ENST00000471181.6:c.4116dup	ENSP00000418960.2:p.Glu1373Ter
ENST00000478531.5:c.804dup	ENSP00000420412.1:p.Glu269Ter
ENST00000484087.5:c.429dup	ENSP00000419481.1:p.Glu144Ter
ENST00000487825.5:c.432dup	ENSP00000418212.1:p.Glu145Ter
ENST00000491747.6:c.807dup	ENSP00000420705.2:p.Glu270Ter
ENST00000493795.5:c.3975dup	ENSP00000418775.1:p.Glu1326Ter
ENST00000493919.5:c.666dup	ENSP00000418819.1:p.Glu223Ter
ENST00000586385.5:c.5-27062dup	ENSP00000465818.1:n.5-27062dup
ENST00000591534.5:c.-43-16492dup	ENSP00000467329.1:n.-43-16492dup
ENST00000591849.5:c.-99+34258dup	ENSP00000465347.1:n.-99+34258dup
NM_007294.3:c.4116dup , LRG_292t1:c.4116dup	NP_009225.1:p.Glu1373Ter
NM_007297.3:c.3975dup	NP_009228.2:p.Glu1326Ter
NM_007298.3:c.807dup	NP_009229.2:p.Glu270Ter
NM_007299.3:c.807dup	NP_009230.2:p.Glu270Ter
NM_007300.3:c.4116dup	NP_009231.2:p.Glu1373Ter
NR_027676.1:n.4252dup
NM_007294.4:c.4116dup MANE Select	NP_009225.1:p.Glu1373Ter
NM_007297.4:c.3975dup	NP_009228.2:p.Glu1326Ter
NM_007299.4:c.807dup	NP_009230.2:p.Glu270Ter
NM_007300.4:c.4116dup	NP_009231.2:p.Glu1373Ter
NR_027676.2:n.4293dup