Canonical Allele Identifier: CA658761287

Gene: BRCA1

Linked Data

• PubMed: PMID:23536787

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094323_43094324dup , CM000679.2:g.43094323_43094324dup	GRCh38
NC_000017.10:g.41246340_41246341dup , CM000679.1:g.41246340_41246341dup	GRCh37
NC_000017.9:g.38499866_38499867dup	NCBI36
NG_005905.2:g.123661_123662dup , LRG_292:g.123661_123662dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1272_1273dup
ENST00000461574.2:c.1208_1209dup	ENSP00000417241.2:p.Glu404LeufsTer7
ENST00000470026.6:c.1208_1209dup	ENSP00000419274.2:p.Glu404LeufsTer7
ENST00000473961.6:c.1082_1083dup	ENSP00000420201.2:p.Glu362LeufsTer7
ENST00000476777.6:c.1205_1206dup	ENSP00000417554.2:p.Glu403LeufsTer7
ENST00000477152.6:c.1130_1131dup	ENSP00000419988.2:p.Glu378LeufsTer7
ENST00000478531.6:c.784+421_784+422dup	ENSP00000420412.2:n.784+421_784+422dup
ENST00000489037.2:c.1130_1131dup	ENSP00000420781.2:p.Glu378LeufsTer7
ENST00000493919.6:c.646+421_646+422dup	ENSP00000418819.2:n.646+421_646+422dup
ENST00000494123.6:c.1208_1209dup	ENSP00000419103.2:p.Glu404LeufsTer7
ENST00000497488.2:c.320_321dup	ENSP00000418986.2:p.Glu108LeufsTer7
ENST00000618469.2:c.1208_1209dup	ENSP00000478114.2:p.Glu404LeufsTer7
ENST00000634433.2:c.1085_1086dup	ENSP00000489431.2:p.Glu363LeufsTer7
ENST00000644379.2:c.1208_1209dup	ENSP00000496570.2:p.Glu404LeufsTer7
ENST00000644555.2:c.646+421_646+422dup	ENSP00000494614.2:n.646+421_646+422dup
ENST00000652672.2:c.1067_1068dup	ENSP00000498906.2:p.Glu357LeufsTer7
ENST00000484087.6:c.664+421_664+422dup	ENSP00000419481.2:n.664+421_664+422dup
ENST00000700182.1:c.706+421_706+422dup	ENSP00000514849.1:n.706+421_706+422dup
ENST00000700183.1:c.*1216_*1217dup	ENSP00000514850.1:n.*1216_*1217dup
ENST00000357654.9:c.1208_1209dup MANE Select	ENSP00000350283.3:p.Glu404LeufsTer7
ENST00000471181.7:c.1208_1209dup	ENSP00000418960.2:p.Glu404LeufsTer7
ENST00000652672.1:c.1067_1068dup	ENSP00000498906.1:p.Glu357LeufsTer7
ENST00000352993.7:c.670+1523_670+1524dup	ENSP00000312236.5:n.670+1523_670+1524dup
ENST00000354071.7:c.1208_1209dup	ENSP00000326002.7:p.Glu404LeufsTer7
ENST00000357654.7:c.1208_1209dup	ENSP00000350283.3:p.Glu404LeufsTer7
ENST00000412061.3:c.559_560dup
ENST00000461221.5:c.*991_*992dup	ENSP00000418548.1:n.*991_*992dup
ENST00000468300.5:c.787+421_787+422dup	ENSP00000417148.1:n.787+421_787+422dup
ENST00000470026.5:c.1208_1209dup	ENSP00000419274.1:p.Glu404LeufsTer7
ENST00000471181.6:c.1208_1209dup	ENSP00000418960.2:p.Glu404LeufsTer7
ENST00000473961.5:c.805_806dup
ENST00000477152.5:c.1130_1131dup	ENSP00000419988.1:p.Glu378LeufsTer7
ENST00000478531.5:c.784+421_784+422dup	ENSP00000420412.1:n.784+421_784+422dup
ENST00000484087.5:c.409+421_409+422dup	ENSP00000419481.1:n.409+421_409+422dup
ENST00000487825.5:c.412+421_412+422dup	ENSP00000418212.1:n.412+421_412+422dup
ENST00000491747.6:c.787+421_787+422dup	ENSP00000420705.2:n.787+421_787+422dup
ENST00000492859.5:c.*1144_*1145dup	ENSP00000420253.1:n.*1144_*1145dup
ENST00000493795.5:c.1067_1068dup	ENSP00000418775.1:p.Glu357LeufsTer7
ENST00000493919.5:c.646+421_646+422dup	ENSP00000418819.1:n.646+421_646+422dup
ENST00000494123.5:c.1208_1209dup	ENSP00000419103.1:p.Glu404LeufsTer7
ENST00000497488.1:c.320_321dup	ENSP00000418986.1:p.Glu108LeufsTer7
ENST00000586385.5:c.5-30372_5-30371dup	ENSP00000465818.1:n.5-30372_5-30371dup
ENST00000591534.5:c.-43-19802_-43-19801dup	ENSP00000467329.1:n.-43-19802_-43-19801du...
ENST00000591849.5:c.-99+30948_-99+30949dup	ENSP00000465347.1:n.-99+30948_-99+30949du...
ENST00000634433.1:c.1085_1086dup	ENSP00000489431.1:p.Glu363LeufsTer7
NM_007294.3:c.1208_1209dup , LRG_292t1:c.1208_1209dup	NP_009225.1:p.Glu404LeufsTer7
NM_007297.3:c.1067_1068dup	NP_009228.2:p.Glu357LeufsTer7
NM_007298.3:c.787+421_787+422dup	NP_009229.2:n.787+421_787+422dup
NM_007299.3:c.787+421_787+422dup	NP_009230.2:n.787+421_787+422dup
NM_007300.3:c.1208_1209dup	NP_009231.2:p.Glu404LeufsTer7
NR_027676.1:n.1344_1345dup
NM_007294.4:c.1208_1209dup MANE Select	NP_009225.1:p.Glu404LeufsTer7
NM_007297.4:c.1067_1068dup	NP_009228.2:p.Glu357LeufsTer7
NM_007299.4:c.787+421_787+422dup	NP_009230.2:n.787+421_787+422dup
NM_007300.4:c.1208_1209dup	NP_009231.2:p.Glu404LeufsTer7
NR_027676.2:n.1385_1386dup