Canonical Allele Identifier: CA2260784817
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094316_43094356delinsTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA , CM000679.2:g.43094316_43094356delinsTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA GRCh38
NC_000017.10:g.41246333_41246373delinsTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA , CM000679.1:g.41246333_41246373delinsTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA GRCh37
NC_000017.9:g.38499859_38499899delinsTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA NCBI36
NG_005905.2:g.123628_123668delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA , LRG_292:g.123628_123668delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.1239_1279delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA
ENST00000461574.2:c.1175_1215delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000417241.2:p.Leu392=
ENST00000470026.6:c.1175_1215delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000419274.2:p.Leu392=
ENST00000473961.6:c.1049_1089delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000420201.2:p.Leu350=
ENST00000476777.6:c.1172_1212delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000417554.2:p.Leu391=
ENST00000477152.6:c.1097_1137delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000419988.2:p.Leu366=
ENST00000478531.6:c.784+388_784+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000420412.2:n.784+388_784+428delinsTGTTAGGTTCTGATGACTCA...
ENST00000489037.2:c.1097_1137delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000420781.2:p.Leu366=
ENST00000493919.6:c.646+388_646+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000418819.2:n.646+388_646+428delinsTGTTAGGTTCTGATGACTCA...
ENST00000494123.6:c.1175_1215delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000419103.2:p.Leu392=
ENST00000497488.2:c.287_327delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000418986.2:p.Leu96=
ENST00000618469.2:c.1175_1215delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000478114.2:p.Leu392=
ENST00000634433.2:c.1052_1092delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000489431.2:p.Leu351=
ENST00000644379.2:c.1175_1215delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000496570.2:p.Leu392=
ENST00000644555.2:c.646+388_646+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000494614.2:n.646+388_646+428delinsTGTTAGGTTCTGATGACTCA...
ENST00000652672.2:c.1034_1074delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000498906.2:p.Leu345=
ENST00000484087.6:c.664+388_664+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000419481.2:n.664+388_664+428delinsTGTTAGGTTCTGATGACTCA...
ENST00000700182.1:c.706+388_706+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000514849.1:n.706+388_706+428delinsTGTTAGGTTCTGATGACTCA...
ENST00000700183.1:c.*1183_*1223delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000514850.1:n.*1183_*1223delinsTGTTAGGTTCTGATGACTCACATG...
ENST00000357654.9:c.1175_1215delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA MANE Select ENSP00000350283.3:p.Leu392=
ENST00000471181.7:c.1175_1215delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000418960.2:p.Leu392=
ENST00000652672.1:c.1034_1074delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000498906.1:p.Leu345=
ENST00000352993.7:c.670+1490_670+1530delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000312236.5:n.670+1490_670+1530delinsTGTTAGGTTCTGATGACT...
ENST00000354071.7:c.1175_1215delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000326002.7:p.Leu392=
ENST00000357654.7:c.1175_1215delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000350283.3:p.Leu392=
ENST00000412061.3:c.526_566delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA
ENST00000461221.5:c.*958_*998delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000418548.1:n.*958_*998delinsTGTTAGGTTCTGATGACTCACATGAT...
ENST00000468300.5:c.787+388_787+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000417148.1:n.787+388_787+428delinsTGTTAGGTTCTGATGACTCA...
ENST00000470026.5:c.1175_1215delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000419274.1:p.Leu392=
ENST00000471181.6:c.1175_1215delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000418960.2:p.Leu392=
ENST00000473961.5:c.772_812delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA
ENST00000477152.5:c.1097_1137delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000419988.1:p.Leu366=
ENST00000478531.5:c.784+388_784+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000420412.1:n.784+388_784+428delinsTGTTAGGTTCTGATGACTCA...
ENST00000484087.5:c.409+388_409+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000419481.1:n.409+388_409+428delinsTGTTAGGTTCTGATGACTCA...
ENST00000487825.5:c.412+388_412+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000418212.1:n.412+388_412+428delinsTGTTAGGTTCTGATGACTCA...
ENST00000491747.6:c.787+388_787+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000420705.2:n.787+388_787+428delinsTGTTAGGTTCTGATGACTCA...
ENST00000492859.5:c.*1111_*1151delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000420253.1:n.*1111_*1151delinsTGTTAGGTTCTGATGACTCACATG...
ENST00000493795.5:c.1034_1074delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000418775.1:p.Leu345=
ENST00000493919.5:c.646+388_646+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000418819.1:n.646+388_646+428delinsTGTTAGGTTCTGATGACTCA...
ENST00000494123.5:c.1175_1215delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000419103.1:p.Leu392=
ENST00000497488.1:c.287_327delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000418986.1:p.Leu96=
ENST00000586385.5:c.5-30405_5-30365delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000465818.1:n.5-30405_5-30365delinsTGTTAGGTTCTGATGACTCA...
ENST00000591534.5:c.-43-19835_-43-19795delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000467329.1:n.-43-19835_-43-19795delinsTGTTAGGTTCTGATGA...
ENST00000591849.5:c.-99+30915_-99+30955delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000465347.1:n.-99+30915_-99+30955delinsTGTTAGGTTCTGATGA...
ENST00000634433.1:c.1052_1092delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA ENSP00000489431.1:p.Leu351=
NM_007294.3:c.1175_1215delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA , LRG_292t1:c.1175_1215delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA NP_009225.1:p.Leu392=
NM_007297.3:c.1034_1074delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA NP_009228.2:p.Leu345=
NM_007298.3:c.787+388_787+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA NP_009229.2:n.787+388_787+428delinsTGTTAGGTTCTGATGACTCACATGAT...
NM_007299.3:c.787+388_787+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA NP_009230.2:n.787+388_787+428delinsTGTTAGGTTCTGATGACTCACATGAT...
NM_007300.3:c.1175_1215delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA NP_009231.2:p.Leu392=
NR_027676.1:n.1311_1351delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA
NM_007294.4:c.1175_1215delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA MANE Select NP_009225.1:p.Leu392=
NM_007297.4:c.1034_1074delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA NP_009228.2:p.Leu345=
NM_007299.4:c.787+388_787+428delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA NP_009230.2:n.787+388_787+428delinsTGTTAGGTTCTGATGACTCACATGAT...
NM_007300.4:c.1175_1215delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA NP_009231.2:p.Leu392=
NR_027676.2:n.1352_1392delinsTGTTAGGTTCTGATGACTCACATGATGGGGAGTCTGAATCA