Canonical Allele Identifier: CA913190560

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 619623
• ClinVar RCV Id: RCV002424757
• dbSNP Id: rs1567796780

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093373_43093374del , CM000679.2:g.43093373_43093374del	GRCh38
NC_000017.10:g.41245390_41245391del , CM000679.1:g.41245390_41245391del	GRCh37
NC_000017.9:g.38498916_38498917del	NCBI36
NG_005905.2:g.124611_124612del , LRG_292:g.124611_124612del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.2222_2223del
ENST00000461574.2:c.2158_2159del	ENSP00000417241.2:p.Glu720IlefsTer5
ENST00000470026.6:c.2158_2159del	ENSP00000419274.2:p.Glu720IlefsTer5
ENST00000473961.6:c.2032_2033del	ENSP00000420201.2:p.Glu678IlefsTer5
ENST00000476777.6:c.2155_2156del	ENSP00000417554.2:p.Glu719IlefsTer5
ENST00000477152.6:c.2080_2081del	ENSP00000419988.2:p.Glu694IlefsTer5
ENST00000478531.6:c.784+1371_784+1372del	ENSP00000420412.2:n.784+1371_784+1372del
ENST00000489037.2:c.2080_2081del	ENSP00000420781.2:p.Glu694IlefsTer5
ENST00000493919.6:c.646+1371_646+1372del	ENSP00000418819.2:n.646+1371_646+1372del
ENST00000494123.6:c.2158_2159del	ENSP00000419103.2:p.Glu720IlefsTer5
ENST00000497488.2:c.1270_1271del	ENSP00000418986.2:p.Glu424IlefsTer5
ENST00000618469.2:c.2158_2159del	ENSP00000478114.2:p.Glu720IlefsTer5
ENST00000634433.2:c.2035_2036del	ENSP00000489431.2:p.Glu679IlefsTer5
ENST00000644379.2:c.2158_2159del	ENSP00000496570.2:p.Glu720IlefsTer5
ENST00000644555.2:c.646+1371_646+1372del	ENSP00000494614.2:n.646+1371_646+1372del
ENST00000652672.2:c.2017_2018del	ENSP00000498906.2:p.Glu673IlefsTer5
ENST00000484087.6:c.664+1371_664+1372del	ENSP00000419481.2:n.664+1371_664+1372del
ENST00000700182.1:c.706+1371_706+1372del	ENSP00000514849.1:n.706+1371_706+1372del
ENST00000357654.9:c.2158_2159del MANE Select	ENSP00000350283.3:p.Glu720IlefsTer5
ENST00000471181.7:c.2158_2159del	ENSP00000418960.2:p.Glu720IlefsTer5
ENST00000352993.7:c.671-2341_671-2340del	ENSP00000312236.5:n.671-2341_671-2340del
ENST00000354071.7:c.2158_2159del	ENSP00000326002.7:p.Glu720IlefsTer5
ENST00000357654.7:c.2158_2159del	ENSP00000350283.3:p.Glu720IlefsTer5
ENST00000461221.5:c.*1941_*1942del	ENSP00000418548.1:n.*1941_*1942del
ENST00000468300.5:c.787+1371_787+1372del	ENSP00000417148.1:n.787+1371_787+1372del
ENST00000471181.6:c.2158_2159del	ENSP00000418960.2:p.Glu720IlefsTer5
ENST00000478531.5:c.784+1371_784+1372del	ENSP00000420412.1:n.784+1371_784+1372del
ENST00000484087.5:c.409+1371_409+1372del	ENSP00000419481.1:n.409+1371_409+1372del
ENST00000487825.5:c.412+1371_412+1372del	ENSP00000418212.1:n.412+1371_412+1372del
ENST00000491747.6:c.787+1371_787+1372del	ENSP00000420705.2:n.787+1371_787+1372del
ENST00000493795.5:c.2017_2018del	ENSP00000418775.1:p.Glu673IlefsTer5
ENST00000493919.5:c.646+1371_646+1372del	ENSP00000418819.1:n.646+1371_646+1372del
ENST00000586385.5:c.5-29422_5-29421del	ENSP00000465818.1:n.5-29422_5-29421del
ENST00000591534.5:c.-43-18852_-43-18851del	ENSP00000467329.1:n.-43-18852_-43-18851de...
ENST00000591849.5:c.-99+31898_-99+31899del	ENSP00000465347.1:n.-99+31898_-99+31899de...
ENST00000634433.1:c.2035_2036del	ENSP00000489431.1:p.Glu679IlefsTer5
NM_007294.3:c.2158_2159del , LRG_292t1:c.2158_2159del	NP_009225.1:p.Glu720IlefsTer5
NM_007297.3:c.2017_2018del	NP_009228.2:p.Glu673IlefsTer5
NM_007298.3:c.787+1371_787+1372del	NP_009229.2:n.787+1371_787+1372del
NM_007299.3:c.787+1371_787+1372del	NP_009230.2:n.787+1371_787+1372del
NM_007300.3:c.2158_2159del	NP_009231.2:p.Glu720IlefsTer5
NR_027676.1:n.2294_2295del
NM_007294.4:c.2158_2159del MANE Select	NP_009225.1:p.Glu720IlefsTer5
NM_007297.4:c.2017_2018del	NP_009228.2:p.Glu673IlefsTer5
NM_007299.4:c.787+1371_787+1372del	NP_009230.2:n.787+1371_787+1372del
NM_007300.4:c.2158_2159del	NP_009231.2:p.Glu720IlefsTer5
NR_027676.2:n.2335_2336del