Canonical Allele Identifier: CA001459

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 125542
• ClinVar RCV Id: RCV000111783 ; RCV000496522 ; RCV001092622
• dbSNP Id: rs80357566
• MyVariant Identifiers: chr17:g.41245360dupC (hg19) ; chr17:g.41245359_41245360insC (hg19) ; chr17:g.43093343dupC (hg38) ; chr17:g.43093342_43093343insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093343dup , CM000679.2:g.43093343dup	GRCh38
NC_000017.10:g.41245360dup , CM000679.1:g.41245360dup	GRCh37
NC_000017.9:g.38498886dup	NCBI36
NG_005905.2:g.124641dup , LRG_292:g.124641dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2252dup
ENST00000461574.2:c.2188dup	ENSP00000417241.2:p.Glu730GlyfsTer10
ENST00000470026.6:c.2188dup	ENSP00000419274.2:p.Glu730GlyfsTer10
ENST00000473961.6:c.2062dup	ENSP00000420201.2:p.Glu688GlyfsTer10
ENST00000476777.6:c.2185dup	ENSP00000417554.2:p.Glu729GlyfsTer10
ENST00000477152.6:c.2110dup	ENSP00000419988.2:p.Glu704GlyfsTer10
ENST00000478531.6:c.784+1401dup	ENSP00000420412.2:n.784+1401dup
ENST00000489037.2:c.2110dup	ENSP00000420781.2:p.Glu704GlyfsTer10
ENST00000493919.6:c.646+1401dup	ENSP00000418819.2:n.646+1401dup
ENST00000494123.6:c.2188dup	ENSP00000419103.2:p.Glu730GlyfsTer10
ENST00000497488.2:c.1300dup	ENSP00000418986.2:p.Glu434GlyfsTer10
ENST00000618469.2:c.2188dup	ENSP00000478114.2:p.Glu730GlyfsTer10
ENST00000634433.2:c.2065dup	ENSP00000489431.2:p.Glu689GlyfsTer10
ENST00000644379.2:c.2188dup	ENSP00000496570.2:p.Glu730GlyfsTer10
ENST00000644555.2:c.646+1401dup	ENSP00000494614.2:n.646+1401dup
ENST00000652672.2:c.2047dup	ENSP00000498906.2:p.Glu683GlyfsTer10
ENST00000484087.6:c.664+1401dup	ENSP00000419481.2:n.664+1401dup
ENST00000700182.1:c.706+1401dup	ENSP00000514849.1:n.706+1401dup
ENST00000357654.9:c.2188dup MANE Select	ENSP00000350283.3:p.Glu730GlyfsTer10
ENST00000471181.7:c.2188dup	ENSP00000418960.2:p.Glu730GlyfsTer10
ENST00000352993.7:c.671-2311dup	ENSP00000312236.5:n.671-2311dup
ENST00000354071.7:c.2188dup	ENSP00000326002.7:p.Glu730GlyfsTer10
ENST00000357654.7:c.2188dup	ENSP00000350283.3:p.Glu730GlyfsTer10
ENST00000461221.5:c.*1971dup	ENSP00000418548.1:n.*1971dup
ENST00000468300.5:c.787+1401dup	ENSP00000417148.1:n.787+1401dup
ENST00000471181.6:c.2188dup	ENSP00000418960.2:p.Glu730GlyfsTer10
ENST00000478531.5:c.784+1401dup	ENSP00000420412.1:n.784+1401dup
ENST00000484087.5:c.409+1401dup	ENSP00000419481.1:n.409+1401dup
ENST00000487825.5:c.412+1401dup	ENSP00000418212.1:n.412+1401dup
ENST00000491747.6:c.787+1401dup	ENSP00000420705.2:n.787+1401dup
ENST00000493795.5:c.2047dup	ENSP00000418775.1:p.Glu683GlyfsTer10
ENST00000493919.5:c.646+1401dup	ENSP00000418819.1:n.646+1401dup
ENST00000586385.5:c.5-29392dup	ENSP00000465818.1:n.5-29392dup
ENST00000591534.5:c.-43-18822dup	ENSP00000467329.1:n.-43-18822dup
ENST00000591849.5:c.-99+31928dup	ENSP00000465347.1:n.-99+31928dup
ENST00000634433.1:c.2065dup	ENSP00000489431.1:p.Glu689GlyfsTer10
NM_007294.3:c.2188dup , LRG_292t1:c.2188dup	NP_009225.1:p.Glu730GlyfsTer10
NM_007297.3:c.2047dup	NP_009228.2:p.Glu683GlyfsTer10
NM_007298.3:c.787+1401dup	NP_009229.2:n.787+1401dup
NM_007299.3:c.787+1401dup	NP_009230.2:n.787+1401dup
NM_007300.3:c.2188dup	NP_009231.2:p.Glu730GlyfsTer10
NR_027676.1:n.2324dup
NM_007294.4:c.2188dup MANE Select	NP_009225.1:p.Glu730GlyfsTer10
NM_007297.4:c.2047dup	NP_009228.2:p.Glu683GlyfsTer10
NM_007299.4:c.787+1401dup	NP_009230.2:n.787+1401dup
NM_007300.4:c.2188dup	NP_009231.2:p.Glu730GlyfsTer10
NR_027676.2:n.2365dup