Canonical Allele Identifier: CA658761301

Gene: BRCA1

Linked Data

• PubMed: PMID:25777348

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093120_43093121del , CM000679.2:g.43093120_43093121del	GRCh38
NC_000017.10:g.41245137_41245138del , CM000679.1:g.41245137_41245138del	GRCh37
NC_000017.9:g.38498663_38498664del	NCBI36
NG_005905.2:g.124863_124864del , LRG_292:g.124863_124864del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2474_2475del
ENST00000461574.2:c.2410_2411del	ENSP00000417241.2:p.Gln804ValfsTer5
ENST00000470026.6:c.2410_2411del	ENSP00000419274.2:p.Gln804ValfsTer5
ENST00000473961.6:c.2284_2285del	ENSP00000420201.2:p.Gln762ValfsTer5
ENST00000476777.6:c.2407_2408del	ENSP00000417554.2:p.Gln803ValfsTer5
ENST00000477152.6:c.2332_2333del	ENSP00000419988.2:p.Gln778ValfsTer5
ENST00000478531.6:c.784+1623_784+1624del	ENSP00000420412.2:n.784+1623_784+1624del
ENST00000489037.2:c.2332_2333del	ENSP00000420781.2:p.Gln778ValfsTer5
ENST00000493919.6:c.646+1623_646+1624del	ENSP00000418819.2:n.646+1623_646+1624del
ENST00000494123.6:c.2410_2411del	ENSP00000419103.2:p.Gln804ValfsTer5
ENST00000497488.2:c.1522_1523del	ENSP00000418986.2:p.Gln508ValfsTer5
ENST00000618469.2:c.2410_2411del	ENSP00000478114.2:p.Gln804ValfsTer5
ENST00000634433.2:c.2287_2288del	ENSP00000489431.2:p.Gln763ValfsTer5
ENST00000644379.2:c.2410_2411del	ENSP00000496570.2:p.Gln804ValfsTer5
ENST00000644555.2:c.646+1623_646+1624del	ENSP00000494614.2:n.646+1623_646+1624del
ENST00000652672.2:c.2269_2270del	ENSP00000498906.2:p.Gln757ValfsTer5
ENST00000484087.6:c.664+1623_664+1624del	ENSP00000419481.2:n.664+1623_664+1624del
ENST00000700182.1:c.706+1623_706+1624del	ENSP00000514849.1:n.706+1623_706+1624del
ENST00000357654.9:c.2410_2411del MANE Select	ENSP00000350283.3:p.Gln804ValfsTer5
ENST00000471181.7:c.2410_2411del	ENSP00000418960.2:p.Gln804ValfsTer5
ENST00000352993.7:c.671-2089_671-2088del	ENSP00000312236.5:n.671-2089_671-2088del
ENST00000354071.7:c.2410_2411del	ENSP00000326002.7:p.Gln804ValfsTer5
ENST00000357654.7:c.2410_2411del	ENSP00000350283.3:p.Gln804ValfsTer5
ENST00000461221.5:c.*2193_*2194del	ENSP00000418548.1:n.*2193_*2194del
ENST00000468300.5:c.787+1623_787+1624del	ENSP00000417148.1:n.787+1623_787+1624del
ENST00000471181.6:c.2410_2411del	ENSP00000418960.2:p.Gln804ValfsTer5
ENST00000478531.5:c.784+1623_784+1624del	ENSP00000420412.1:n.784+1623_784+1624del
ENST00000484087.5:c.409+1623_409+1624del	ENSP00000419481.1:n.409+1623_409+1624del
ENST00000487825.5:c.412+1623_412+1624del	ENSP00000418212.1:n.412+1623_412+1624del
ENST00000491747.6:c.787+1623_787+1624del	ENSP00000420705.2:n.787+1623_787+1624del
ENST00000493795.5:c.2269_2270del	ENSP00000418775.1:p.Gln757ValfsTer5
ENST00000493919.5:c.646+1623_646+1624del	ENSP00000418819.1:n.646+1623_646+1624del
ENST00000586385.5:c.5-29170_5-29169del	ENSP00000465818.1:n.5-29170_5-29169del
ENST00000591534.5:c.-43-18600_-43-18599del	ENSP00000467329.1:n.-43-18600_-43-18599del
ENST00000591849.5:c.-99+32150_-99+32151del	ENSP00000465347.1:n.-99+32150_-99+32151del
ENST00000634433.1:c.2287_2288del	ENSP00000489431.1:p.Gln763ValfsTer5
NM_007294.3:c.2410_2411del , LRG_292t1:c.2410_2411del	NP_009225.1:p.Gln804ValfsTer5
NM_007297.3:c.2269_2270del	NP_009228.2:p.Gln757ValfsTer5
NM_007298.3:c.787+1623_787+1624del	NP_009229.2:n.787+1623_787+1624del
NM_007299.3:c.787+1623_787+1624del	NP_009230.2:n.787+1623_787+1624del
NM_007300.3:c.2410_2411del	NP_009231.2:p.Gln804ValfsTer5
NR_027676.1:n.2546_2547del
NM_007294.4:c.2410_2411del MANE Select	NP_009225.1:p.Gln804ValfsTer5
NM_007297.4:c.2269_2270del	NP_009228.2:p.Gln757ValfsTer5
NM_007299.4:c.787+1623_787+1624del	NP_009230.2:n.787+1623_787+1624del
NM_007300.4:c.2410_2411del	NP_009231.2:p.Gln804ValfsTer5
NR_027676.2:n.2587_2588del