Canonical Allele Identifier: CA000727
Gene: BRCA1 HGNC NCBI

Linked Data

dbSNP Id: rs80357897

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094447_43094448del , CM000679.2:g.43094447_43094448del GRCh38
NC_000017.10:g.41246464_41246465del , CM000679.1:g.41246464_41246465del GRCh37
NC_000017.9:g.38499990_38499991del NCBI36
NG_005905.2:g.123539_123540del , LRG_292:g.123539_123540del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.1150_1151del
ENST00000461574.2:c.1086_1087del ENSP00000417241.2:p.Asn363SerfsTer2
ENST00000470026.6:c.1086_1087del ENSP00000419274.2:p.Asn363SerfsTer2
ENST00000473961.6:c.960_961del ENSP00000420201.2:p.Asn321SerfsTer2
ENST00000476777.6:c.1083_1084del ENSP00000417554.2:p.Asn362SerfsTer2
ENST00000477152.6:c.1008_1009del ENSP00000419988.2:p.Asn337SerfsTer2
ENST00000478531.6:c.784+299_784+300del ENSP00000420412.2:n.784+299_784+300del
ENST00000489037.2:c.1008_1009del ENSP00000420781.2:p.Asn337SerfsTer2
ENST00000493919.6:c.646+299_646+300del ENSP00000418819.2:n.646+299_646+300del
ENST00000494123.6:c.1086_1087del ENSP00000419103.2:p.Asn363SerfsTer2
ENST00000497488.2:c.198_199del ENSP00000418986.2:p.Asn67SerfsTer2
ENST00000618469.2:c.1086_1087del ENSP00000478114.2:p.Asn363SerfsTer2
ENST00000634433.2:c.963_964del ENSP00000489431.2:p.Asn322SerfsTer2
ENST00000644379.2:c.1086_1087del ENSP00000496570.2:p.Asn363SerfsTer2
ENST00000644555.2:c.646+299_646+300del ENSP00000494614.2:n.646+299_646+300del
ENST00000652672.2:c.945_946del ENSP00000498906.2:p.Asn316SerfsTer2
ENST00000484087.6:c.664+299_664+300del ENSP00000419481.2:n.664+299_664+300del
ENST00000700182.1:c.706+299_706+300del ENSP00000514849.1:n.706+299_706+300del
ENST00000700183.1:c.*1094_*1095del ENSP00000514850.1:n.*1094_*1095del
ENST00000357654.9:c.1086_1087del MANE Select ENSP00000350283.3:p.Asn363SerfsTer2
ENST00000471181.7:c.1086_1087del ENSP00000418960.2:p.Asn363SerfsTer2
ENST00000652672.1:c.945_946del ENSP00000498906.1:p.Asn316SerfsTer2
ENST00000352993.7:c.670+1401_670+1402del ENSP00000312236.5:n.670+1401_670+1402del
ENST00000354071.7:c.1086_1087del ENSP00000326002.7:p.Asn363SerfsTer2
ENST00000357654.7:c.1086_1087del ENSP00000350283.3:p.Asn363SerfsTer2
ENST00000412061.3:c.437_438del
ENST00000461221.5:c.*869_*870del ENSP00000418548.1:n.*869_*870del
ENST00000468300.5:c.787+299_787+300del ENSP00000417148.1:n.787+299_787+300del
ENST00000470026.5:c.1086_1087del ENSP00000419274.1:p.Asn363SerfsTer2
ENST00000471181.6:c.1086_1087del ENSP00000418960.2:p.Asn363SerfsTer2
ENST00000473961.5:c.683_684del
ENST00000477152.5:c.1008_1009del ENSP00000419988.1:p.Asn337SerfsTer2
ENST00000478531.5:c.784+299_784+300del ENSP00000420412.1:n.784+299_784+300del
ENST00000484087.5:c.409+299_409+300del ENSP00000419481.1:n.409+299_409+300del
ENST00000487825.5:c.412+299_412+300del ENSP00000418212.1:n.412+299_412+300del
ENST00000491747.6:c.787+299_787+300del ENSP00000420705.2:n.787+299_787+300del
ENST00000492859.5:c.*1022_*1023del ENSP00000420253.1:n.*1022_*1023del
ENST00000493795.5:c.945_946del ENSP00000418775.1:p.Asn316SerfsTer2
ENST00000493919.5:c.646+299_646+300del ENSP00000418819.1:n.646+299_646+300del
ENST00000494123.5:c.1086_1087del ENSP00000419103.1:p.Asn363SerfsTer2
ENST00000497488.1:c.198_199del ENSP00000418986.1:p.Asn67SerfsTer2
ENST00000586385.5:c.5-30494_5-30493del ENSP00000465818.1:n.5-30494_5-30493del
ENST00000591534.5:c.-43-19924_-43-19923del ENSP00000467329.1:n.-43-19924_-43-19923de...
ENST00000591849.5:c.-99+30826_-99+30827del ENSP00000465347.1:n.-99+30826_-99+30827de...
ENST00000634433.1:c.963_964del ENSP00000489431.1:p.Asn322SerfsTer2
NM_007294.3:c.1086_1087del , LRG_292t1:c.1086_1087del NP_009225.1:p.Asn363SerfsTer2
NM_007297.3:c.945_946del NP_009228.2:p.Asn316SerfsTer2
NM_007298.3:c.787+299_787+300del NP_009229.2:n.787+299_787+300del
NM_007299.3:c.787+299_787+300del NP_009230.2:n.787+299_787+300del
NM_007300.3:c.1086_1087del NP_009231.2:p.Asn363SerfsTer2
NR_027676.1:n.1222_1223del
NM_007294.4:c.1086_1087del MANE Select NP_009225.1:p.Asn363SerfsTer2
NM_007297.4:c.945_946del NP_009228.2:p.Asn316SerfsTer2
NM_007299.4:c.787+299_787+300del NP_009230.2:n.787+299_787+300del
NM_007300.4:c.1086_1087del NP_009231.2:p.Asn363SerfsTer2
NR_027676.2:n.1263_1264del