Canonical Allele Identifier: CA1139532220
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094327_43094366del , CM000679.2:g.43094327_43094366del GRCh38
NC_000017.10:g.41246344_41246383del , CM000679.1:g.41246344_41246383del GRCh37
NC_000017.9:g.38499870_38499909del NCBI36
NG_005905.2:g.123621_123660del , LRG_292:g.123621_123660del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.1232_1271del
ENST00000461574.2:c.1168_1207del ENSP00000417241.2:p.Asp390LeufsTer7
ENST00000470026.6:c.1168_1207del ENSP00000419274.2:p.Asp390LeufsTer7
ENST00000473961.6:c.1042_1081del ENSP00000420201.2:p.Asp348LeufsTer7
ENST00000476777.6:c.1165_1204del ENSP00000417554.2:p.Asp389LeufsTer7
ENST00000477152.6:c.1090_1129del ENSP00000419988.2:p.Asp364LeufsTer7
ENST00000478531.6:c.784+381_784+420del ENSP00000420412.2:n.784+381_784+420del
ENST00000489037.2:c.1090_1129del ENSP00000420781.2:p.Asp364LeufsTer7
ENST00000493919.6:c.646+381_646+420del ENSP00000418819.2:n.646+381_646+420del
ENST00000494123.6:c.1168_1207del ENSP00000419103.2:p.Asp390LeufsTer7
ENST00000497488.2:c.280_319del ENSP00000418986.2:p.Asp94LeufsTer7
ENST00000618469.2:c.1168_1207del ENSP00000478114.2:p.Asp390LeufsTer7
ENST00000634433.2:c.1045_1084del ENSP00000489431.2:p.Asp349LeufsTer7
ENST00000644379.2:c.1168_1207del ENSP00000496570.2:p.Asp390LeufsTer7
ENST00000644555.2:c.646+381_646+420del ENSP00000494614.2:n.646+381_646+420del
ENST00000652672.2:c.1027_1066del ENSP00000498906.2:p.Asp343LeufsTer7
ENST00000484087.6:c.664+381_664+420del ENSP00000419481.2:n.664+381_664+420del
ENST00000700182.1:c.706+381_706+420del ENSP00000514849.1:n.706+381_706+420del
ENST00000700183.1:c.*1176_*1215del ENSP00000514850.1:n.*1176_*1215del
ENST00000357654.9:c.1168_1207del MANE Select ENSP00000350283.3:p.Asp390LeufsTer7
ENST00000471181.7:c.1168_1207del ENSP00000418960.2:p.Asp390LeufsTer7
ENST00000652672.1:c.1027_1066del ENSP00000498906.1:p.Asp343LeufsTer7
ENST00000352993.7:c.670+1483_670+1522del ENSP00000312236.5:n.670+1483_670+1522del
ENST00000354071.7:c.1168_1207del ENSP00000326002.7:p.Asp390LeufsTer7
ENST00000357654.7:c.1168_1207del ENSP00000350283.3:p.Asp390LeufsTer7
ENST00000412061.3:c.519_558del
ENST00000461221.5:c.*951_*990del ENSP00000418548.1:n.*951_*990del
ENST00000468300.5:c.787+381_787+420del ENSP00000417148.1:n.787+381_787+420del
ENST00000470026.5:c.1168_1207del ENSP00000419274.1:p.Asp390LeufsTer7
ENST00000471181.6:c.1168_1207del ENSP00000418960.2:p.Asp390LeufsTer7
ENST00000473961.5:c.765_804del
ENST00000477152.5:c.1090_1129del ENSP00000419988.1:p.Asp364LeufsTer7
ENST00000478531.5:c.784+381_784+420del ENSP00000420412.1:n.784+381_784+420del
ENST00000484087.5:c.409+381_409+420del ENSP00000419481.1:n.409+381_409+420del
ENST00000487825.5:c.412+381_412+420del ENSP00000418212.1:n.412+381_412+420del
ENST00000491747.6:c.787+381_787+420del ENSP00000420705.2:n.787+381_787+420del
ENST00000492859.5:c.*1104_*1143del ENSP00000420253.1:n.*1104_*1143del
ENST00000493795.5:c.1027_1066del ENSP00000418775.1:p.Asp343LeufsTer7
ENST00000493919.5:c.646+381_646+420del ENSP00000418819.1:n.646+381_646+420del
ENST00000494123.5:c.1168_1207del ENSP00000419103.1:p.Asp390LeufsTer7
ENST00000497488.1:c.280_319del ENSP00000418986.1:p.Asp94LeufsTer7
ENST00000586385.5:c.5-30412_5-30373del ENSP00000465818.1:n.5-30412_5-30373del
ENST00000591534.5:c.-43-19842_-43-19803del ENSP00000467329.1:n.-43-19842_-43-19803de...
ENST00000591849.5:c.-99+30908_-99+30947del ENSP00000465347.1:n.-99+30908_-99+30947de...
ENST00000634433.1:c.1045_1084del ENSP00000489431.1:p.Asp349LeufsTer7
NM_007294.3:c.1168_1207del , LRG_292t1:c.1168_1207del NP_009225.1:p.Asp390LeufsTer7
NM_007297.3:c.1027_1066del NP_009228.2:p.Asp343LeufsTer7
NM_007298.3:c.787+381_787+420del NP_009229.2:n.787+381_787+420del
NM_007299.3:c.787+381_787+420del NP_009230.2:n.787+381_787+420del
NM_007300.3:c.1168_1207del NP_009231.2:p.Asp390LeufsTer7
NR_027676.1:n.1304_1343del
NM_007294.4:c.1168_1207del MANE Select NP_009225.1:p.Asp390LeufsTer7
NM_007297.4:c.1027_1066del NP_009228.2:p.Asp343LeufsTer7
NM_007299.4:c.787+381_787+420del NP_009230.2:n.787+381_787+420del
NM_007300.4:c.1168_1207del NP_009231.2:p.Asp390LeufsTer7
NR_027676.2:n.1345_1384del