Canonical Allele Identifier: CA2499224518

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1075630
• ClinVar RCV Id: RCV001389271
• dbSNP Id: rs2154395922

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093367_43093370del , CM000679.2:g.43093367_43093370del	GRCh38
NC_000017.10:g.41245384_41245387del , CM000679.1:g.41245384_41245387del	GRCh37
NC_000017.9:g.38498910_38498913del	NCBI36
NG_005905.2:g.124615_124618del , LRG_292:g.124615_124618del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.2226_2229del
ENST00000461574.2:c.2162_2165del	ENSP00000417241.2:p.Phe721SerfsTer14
ENST00000470026.6:c.2162_2165del	ENSP00000419274.2:p.Phe721SerfsTer14
ENST00000473961.6:c.2036_2039del	ENSP00000420201.2:p.Phe679SerfsTer14
ENST00000476777.6:c.2159_2162del	ENSP00000417554.2:p.Phe720SerfsTer14
ENST00000477152.6:c.2084_2087del	ENSP00000419988.2:p.Phe695SerfsTer14
ENST00000478531.6:c.784+1375_784+1378del	ENSP00000420412.2:n.784+1375_784+1378del
ENST00000489037.2:c.2084_2087del	ENSP00000420781.2:p.Phe695SerfsTer14
ENST00000493919.6:c.646+1375_646+1378del	ENSP00000418819.2:n.646+1375_646+1378del
ENST00000494123.6:c.2162_2165del	ENSP00000419103.2:p.Phe721SerfsTer14
ENST00000497488.2:c.1274_1277del	ENSP00000418986.2:p.Phe425SerfsTer14
ENST00000618469.2:c.2162_2165del	ENSP00000478114.2:p.Phe721SerfsTer14
ENST00000634433.2:c.2039_2042del	ENSP00000489431.2:p.Phe680SerfsTer14
ENST00000644379.2:c.2162_2165del	ENSP00000496570.2:p.Phe721SerfsTer14
ENST00000644555.2:c.646+1375_646+1378del	ENSP00000494614.2:n.646+1375_646+1378del
ENST00000652672.2:c.2021_2024del	ENSP00000498906.2:p.Phe674SerfsTer14
ENST00000484087.6:c.664+1375_664+1378del	ENSP00000419481.2:n.664+1375_664+1378del
ENST00000700182.1:c.706+1375_706+1378del	ENSP00000514849.1:n.706+1375_706+1378del
ENST00000357654.9:c.2162_2165del MANE Select	ENSP00000350283.3:p.Phe721SerfsTer14
ENST00000471181.7:c.2162_2165del	ENSP00000418960.2:p.Phe721SerfsTer14
ENST00000352993.7:c.671-2337_671-2334del	ENSP00000312236.5:n.671-2337_671-2334del
ENST00000354071.7:c.2162_2165del	ENSP00000326002.7:p.Phe721SerfsTer14
ENST00000357654.7:c.2162_2165del	ENSP00000350283.3:p.Phe721SerfsTer14
ENST00000461221.5:c.*1945_*1948del	ENSP00000418548.1:n.*1945_*1948del
ENST00000468300.5:c.787+1375_787+1378del	ENSP00000417148.1:n.787+1375_787+1378del
ENST00000471181.6:c.2162_2165del	ENSP00000418960.2:p.Phe721SerfsTer14
ENST00000478531.5:c.784+1375_784+1378del	ENSP00000420412.1:n.784+1375_784+1378del
ENST00000484087.5:c.409+1375_409+1378del	ENSP00000419481.1:n.409+1375_409+1378del
ENST00000487825.5:c.412+1375_412+1378del	ENSP00000418212.1:n.412+1375_412+1378del
ENST00000491747.6:c.787+1375_787+1378del	ENSP00000420705.2:n.787+1375_787+1378del
ENST00000493795.5:c.2021_2024del	ENSP00000418775.1:p.Phe674SerfsTer14
ENST00000493919.5:c.646+1375_646+1378del	ENSP00000418819.1:n.646+1375_646+1378del
ENST00000586385.5:c.5-29418_5-29415del	ENSP00000465818.1:n.5-29418_5-29415del
ENST00000591534.5:c.-43-18848_-43-18845del	ENSP00000467329.1:n.-43-18848_-43-18845de...
ENST00000591849.5:c.-99+31902_-99+31905del	ENSP00000465347.1:n.-99+31902_-99+31905de...
ENST00000634433.1:c.2039_2042del	ENSP00000489431.1:p.Phe680SerfsTer14
NM_007294.3:c.2162_2165del , LRG_292t1:c.2162_2165del	NP_009225.1:p.Phe721SerfsTer14
NM_007297.3:c.2021_2024del	NP_009228.2:p.Phe674SerfsTer14
NM_007298.3:c.787+1375_787+1378del	NP_009229.2:n.787+1375_787+1378del
NM_007299.3:c.787+1375_787+1378del	NP_009230.2:n.787+1375_787+1378del
NM_007300.3:c.2162_2165del	NP_009231.2:p.Phe721SerfsTer14
NR_027676.1:n.2298_2301del
NM_007294.4:c.2162_2165del MANE Select	NP_009225.1:p.Phe721SerfsTer14
NM_007297.4:c.2021_2024del	NP_009228.2:p.Phe674SerfsTer14
NM_007299.4:c.787+1375_787+1378del	NP_009230.2:n.787+1375_787+1378del
NM_007300.4:c.2162_2165del	NP_009231.2:p.Phe721SerfsTer14
NR_027676.2:n.2339_2342del