Canonical Allele Identifier: CA658653707
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 441346
ClinVar RCV Id: RCV000509914
dbSNP Id: rs1555592207

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094325_43094331delinsACCTAACAGTTCATGTGAG , CM000679.2:g.43094325_43094331delinsACCTAACAGTTCATGTGAG GRCh38
NC_000017.10:g.41246342_41246348delinsACCTAACAGTTCATGTGAG , CM000679.1:g.41246342_41246348delinsACCTAACAGTTCATGTGAG GRCh37
NC_000017.9:g.38499868_38499874delinsACCTAACAGTTCATGTGAG NCBI36
NG_005905.2:g.123653_123659delinsCTCACATGAACTGTTAGGT , LRG_292:g.123653_123659delinsCTCACATGAACTGTTAGGT

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.1264_1270delinsCTCACATGAACTGTTAGGT
ENST00000461574.2:c.1200_1206delinsCTCACATGAACTGTTAGGT ENSP00000417241.2:p.Gly401_Glu402delinsSe...
ENST00000470026.6:c.1200_1206delinsCTCACATGAACTGTTAGGT ENSP00000419274.2:p.Gly401_Glu402delinsSe...
ENST00000473961.6:c.1074_1080delinsCTCACATGAACTGTTAGGT ENSP00000420201.2:p.Gly359_Glu360delinsSe...
ENST00000476777.6:c.1197_1203delinsCTCACATGAACTGTTAGGT ENSP00000417554.2:p.Gly400_Glu401delinsSe...
ENST00000477152.6:c.1122_1128delinsCTCACATGAACTGTTAGGT ENSP00000419988.2:p.Gly375_Glu376delinsSe...
ENST00000478531.6:c.784+413_784+419delinsCTCACATGAACTGTTAGGT ENSP00000420412.2:n.784+413_784+419delins...
ENST00000489037.2:c.1122_1128delinsCTCACATGAACTGTTAGGT ENSP00000420781.2:p.Gly375_Glu376delinsSe...
ENST00000493919.6:c.646+413_646+419delinsCTCACATGAACTGTTAGGT ENSP00000418819.2:n.646+413_646+419delins...
ENST00000494123.6:c.1200_1206delinsCTCACATGAACTGTTAGGT ENSP00000419103.2:p.Gly401_Glu402delinsSe...
ENST00000497488.2:c.312_318delinsCTCACATGAACTGTTAGGT ENSP00000418986.2:p.Gly105_Glu106delinsSe...
ENST00000618469.2:c.1200_1206delinsCTCACATGAACTGTTAGGT ENSP00000478114.2:p.Gly401_Glu402delinsSe...
ENST00000634433.2:c.1077_1083delinsCTCACATGAACTGTTAGGT ENSP00000489431.2:p.Gly360_Glu361delinsSe...
ENST00000644379.2:c.1200_1206delinsCTCACATGAACTGTTAGGT ENSP00000496570.2:p.Gly401_Glu402delinsSe...
ENST00000644555.2:c.646+413_646+419delinsCTCACATGAACTGTTAGGT ENSP00000494614.2:n.646+413_646+419delins...
ENST00000652672.2:c.1059_1065delinsCTCACATGAACTGTTAGGT ENSP00000498906.2:p.Gly354_Glu355delinsSe...
ENST00000484087.6:c.664+413_664+419delinsCTCACATGAACTGTTAGGT ENSP00000419481.2:n.664+413_664+419delins...
ENST00000700182.1:c.706+413_706+419delinsCTCACATGAACTGTTAGGT ENSP00000514849.1:n.706+413_706+419delins...
ENST00000700183.1:c.*1208_*1214delinsCTCACATGAACTGTTAGGT ENSP00000514850.1:n.*1208_*1214delinsCTCA...
ENST00000357654.9:c.1200_1206delinsCTCACATGAACTGTTAGGT MANE Select ENSP00000350283.3:p.Gly401_Glu402delinsSe...
ENST00000471181.7:c.1200_1206delinsCTCACATGAACTGTTAGGT ENSP00000418960.2:p.Gly401_Glu402delinsSe...
ENST00000652672.1:c.1059_1065delinsCTCACATGAACTGTTAGGT ENSP00000498906.1:p.Gly354_Glu355delinsSe...
ENST00000352993.7:c.670+1515_670+1521delinsCTCACATGAACTGTTAGGT ENSP00000312236.5:n.670+1515_670+1521deli...
ENST00000354071.7:c.1200_1206delinsCTCACATGAACTGTTAGGT ENSP00000326002.7:p.Gly401_Glu402delinsSe...
ENST00000357654.7:c.1200_1206delinsCTCACATGAACTGTTAGGT ENSP00000350283.3:p.Gly401_Glu402delinsSe...
ENST00000412061.3:c.551_557delinsCTCACATGAACTGTTAGGT
ENST00000461221.5:c.*983_*989delinsCTCACATGAACTGTTAGGT ENSP00000418548.1:n.*983_*989delinsCTCACA...
ENST00000468300.5:c.787+413_787+419delinsCTCACATGAACTGTTAGGT ENSP00000417148.1:n.787+413_787+419delins...
ENST00000470026.5:c.1200_1206delinsCTCACATGAACTGTTAGGT ENSP00000419274.1:p.Gly401_Glu402delinsSe...
ENST00000471181.6:c.1200_1206delinsCTCACATGAACTGTTAGGT ENSP00000418960.2:p.Gly401_Glu402delinsSe...
ENST00000473961.5:c.797_803delinsCTCACATGAACTGTTAGGT
ENST00000477152.5:c.1122_1128delinsCTCACATGAACTGTTAGGT ENSP00000419988.1:p.Gly375_Glu376delinsSe...
ENST00000478531.5:c.784+413_784+419delinsCTCACATGAACTGTTAGGT ENSP00000420412.1:n.784+413_784+419delins...
ENST00000484087.5:c.409+413_409+419delinsCTCACATGAACTGTTAGGT ENSP00000419481.1:n.409+413_409+419delins...
ENST00000487825.5:c.412+413_412+419delinsCTCACATGAACTGTTAGGT ENSP00000418212.1:n.412+413_412+419delins...
ENST00000491747.6:c.787+413_787+419delinsCTCACATGAACTGTTAGGT ENSP00000420705.2:n.787+413_787+419delins...
ENST00000492859.5:c.*1136_*1142delinsCTCACATGAACTGTTAGGT ENSP00000420253.1:n.*1136_*1142delinsCTCA...
ENST00000493795.5:c.1059_1065delinsCTCACATGAACTGTTAGGT ENSP00000418775.1:p.Gly354_Glu355delinsSe...
ENST00000493919.5:c.646+413_646+419delinsCTCACATGAACTGTTAGGT ENSP00000418819.1:n.646+413_646+419delins...
ENST00000494123.5:c.1200_1206delinsCTCACATGAACTGTTAGGT ENSP00000419103.1:p.Gly401_Glu402delinsSe...
ENST00000497488.1:c.312_318delinsCTCACATGAACTGTTAGGT ENSP00000418986.1:p.Gly105_Glu106delinsSe...
ENST00000586385.5:c.5-30380_5-30374delinsCTCACATGAACTGTTAGGT ENSP00000465818.1:n.5-30380_5-30374delins...
ENST00000591534.5:c.-43-19810_-43-19804delinsCTCACATGAACTGTTAGGT ENSP00000467329.1:n.-43-19810_-43-19804de...
ENST00000591849.5:c.-99+30940_-99+30946delinsCTCACATGAACTGTTAGGT ENSP00000465347.1:n.-99+30940_-99+30946de...
ENST00000634433.1:c.1077_1083delinsCTCACATGAACTGTTAGGT ENSP00000489431.1:p.Gly360_Glu361delinsSe...
NM_007294.3:c.1200_1206delinsCTCACATGAACTGTTAGGT , LRG_292t1:c.1200_1206delinsCTCACATGAACTGTTAGGT NP_009225.1:p.Gly401_Glu402delinsSerHisGl...
NM_007297.3:c.1059_1065delinsCTCACATGAACTGTTAGGT NP_009228.2:p.Gly354_Glu355delinsSerHisGl...
NM_007298.3:c.787+413_787+419delinsCTCACATGAACTGTTAGGT NP_009229.2:n.787+413_787+419delinsCTCACA...
NM_007299.3:c.787+413_787+419delinsCTCACATGAACTGTTAGGT NP_009230.2:n.787+413_787+419delinsCTCACA...
NM_007300.3:c.1200_1206delinsCTCACATGAACTGTTAGGT NP_009231.2:p.Gly401_Glu402delinsSerHisGl...
NR_027676.1:n.1336_1342delinsCTCACATGAACTGTTAGGT
NM_007294.4:c.1200_1206delinsCTCACATGAACTGTTAGGT MANE Select NP_009225.1:p.Gly401_Glu402delinsSerHisGl...
NM_007297.4:c.1059_1065delinsCTCACATGAACTGTTAGGT NP_009228.2:p.Gly354_Glu355delinsSerHisGl...
NM_007299.4:c.787+413_787+419delinsCTCACATGAACTGTTAGGT NP_009230.2:n.787+413_787+419delinsCTCACA...
NM_007300.4:c.1200_1206delinsCTCACATGAACTGTTAGGT NP_009231.2:p.Gly401_Glu402delinsSerHisGl...
NR_027676.2:n.1377_1383delinsCTCACATGAACTGTTAGGT