Canonical Allele Identifier: CA1139664781

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 928532
• ClinVar RCV Id: RCV001192552 ; RCV001800965 ; RCV003473728
• dbSNP Id: rs2053797991

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093297dup , CM000679.2:g.43093297dup	GRCh38
NC_000017.10:g.41245314dup , CM000679.1:g.41245314dup	GRCh37
NC_000017.9:g.38498840dup	NCBI36
NG_005905.2:g.124688dup , LRG_292:g.124688dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2299dup
ENST00000461574.2:c.2235dup	ENSP00000417241.2:p.Asp746ArgfsTer16
ENST00000470026.6:c.2235dup	ENSP00000419274.2:p.Asp746ArgfsTer16
ENST00000473961.6:c.2109dup	ENSP00000420201.2:p.Asp704ArgfsTer16
ENST00000476777.6:c.2232dup	ENSP00000417554.2:p.Asp745ArgfsTer16
ENST00000477152.6:c.2157dup	ENSP00000419988.2:p.Asp720ArgfsTer16
ENST00000478531.6:c.784+1448dup	ENSP00000420412.2:n.784+1448dup
ENST00000489037.2:c.2157dup	ENSP00000420781.2:p.Asp720ArgfsTer16
ENST00000493919.6:c.646+1448dup	ENSP00000418819.2:n.646+1448dup
ENST00000494123.6:c.2235dup	ENSP00000419103.2:p.Asp746ArgfsTer16
ENST00000497488.2:c.1347dup	ENSP00000418986.2:p.Asp450ArgfsTer16
ENST00000618469.2:c.2235dup	ENSP00000478114.2:p.Asp746ArgfsTer16
ENST00000634433.2:c.2112dup	ENSP00000489431.2:p.Asp705ArgfsTer16
ENST00000644379.2:c.2235dup	ENSP00000496570.2:p.Asp746ArgfsTer16
ENST00000644555.2:c.646+1448dup	ENSP00000494614.2:n.646+1448dup
ENST00000652672.2:c.2094dup	ENSP00000498906.2:p.Asp699ArgfsTer16
ENST00000484087.6:c.664+1448dup	ENSP00000419481.2:n.664+1448dup
ENST00000700182.1:c.706+1448dup	ENSP00000514849.1:n.706+1448dup
ENST00000357654.9:c.2235dup MANE Select	ENSP00000350283.3:p.Asp746ArgfsTer16
ENST00000471181.7:c.2235dup	ENSP00000418960.2:p.Asp746ArgfsTer16
ENST00000352993.7:c.671-2264dup	ENSP00000312236.5:n.671-2264dup
ENST00000354071.7:c.2235dup	ENSP00000326002.7:p.Asp746ArgfsTer16
ENST00000357654.7:c.2235dup	ENSP00000350283.3:p.Asp746ArgfsTer16
ENST00000461221.5:c.*2018dup	ENSP00000418548.1:n.*2018dup
ENST00000468300.5:c.787+1448dup	ENSP00000417148.1:n.787+1448dup
ENST00000471181.6:c.2235dup	ENSP00000418960.2:p.Asp746ArgfsTer16
ENST00000478531.5:c.784+1448dup	ENSP00000420412.1:n.784+1448dup
ENST00000484087.5:c.409+1448dup	ENSP00000419481.1:n.409+1448dup
ENST00000487825.5:c.412+1448dup	ENSP00000418212.1:n.412+1448dup
ENST00000491747.6:c.787+1448dup	ENSP00000420705.2:n.787+1448dup
ENST00000493795.5:c.2094dup	ENSP00000418775.1:p.Asp699ArgfsTer16
ENST00000493919.5:c.646+1448dup	ENSP00000418819.1:n.646+1448dup
ENST00000586385.5:c.5-29345dup	ENSP00000465818.1:n.5-29345dup
ENST00000591534.5:c.-43-18775dup	ENSP00000467329.1:n.-43-18775dup
ENST00000591849.5:c.-99+31975dup	ENSP00000465347.1:n.-99+31975dup
ENST00000634433.1:c.2112dup	ENSP00000489431.1:p.Asp705ArgfsTer16
NM_007294.3:c.2235dup , LRG_292t1:c.2235dup	NP_009225.1:p.Asp746ArgfsTer16
NM_007297.3:c.2094dup	NP_009228.2:p.Asp699ArgfsTer16
NM_007298.3:c.787+1448dup	NP_009229.2:n.787+1448dup
NM_007299.3:c.787+1448dup	NP_009230.2:n.787+1448dup
NM_007300.3:c.2235dup	NP_009231.2:p.Asp746ArgfsTer16
NR_027676.1:n.2371dup
NM_007294.4:c.2235dup MANE Select	NP_009225.1:p.Asp746ArgfsTer16
NM_007297.4:c.2094dup	NP_009228.2:p.Asp699ArgfsTer16
NM_007299.4:c.787+1448dup	NP_009230.2:n.787+1448dup
NM_007300.4:c.2235dup	NP_009231.2:p.Asp746ArgfsTer16
NR_027676.2:n.2412dup