Canonical Allele Identifier: CA001066
Gene: BRCA1 HGNC NCBI
BRCA Exchange:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093923_43093926del , CM000679.2:g.43093923_43093926del GRCh38
NC_000017.10:g.41245940_41245943del , CM000679.1:g.41245940_41245943del GRCh37
NC_000017.9:g.38499466_38499469del NCBI36
NG_005905.2:g.124061_124064del , LRG_292:g.124061_124064del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.1672_1675del
ENST00000461574.2:c.1608_1611del ENSP00000417241.2:p.Asn537LysfsTer8
ENST00000470026.6:c.1608_1611del ENSP00000419274.2:p.Asn537LysfsTer8
ENST00000473961.6:c.1482_1485del ENSP00000420201.2:p.Asn495LysfsTer8
ENST00000476777.6:c.1605_1608del ENSP00000417554.2:p.Asn536LysfsTer8
ENST00000477152.6:c.1530_1533del ENSP00000419988.2:p.Asn511LysfsTer8
ENST00000478531.6:c.784+821_784+824del ENSP00000420412.2:n.784+821_784+824del
ENST00000489037.2:c.1530_1533del ENSP00000420781.2:p.Asn511LysfsTer8
ENST00000493919.6:c.646+821_646+824del ENSP00000418819.2:n.646+821_646+824del
ENST00000494123.6:c.1608_1611del ENSP00000419103.2:p.Asn537LysfsTer8
ENST00000497488.2:c.720_723del ENSP00000418986.2:p.Asn241LysfsTer8
ENST00000618469.2:c.1608_1611del ENSP00000478114.2:p.Asn537LysfsTer8
ENST00000634433.2:c.1485_1488del ENSP00000489431.2:p.Asn496LysfsTer8
ENST00000644379.2:c.1608_1611del ENSP00000496570.2:p.Asn537LysfsTer8
ENST00000644555.2:c.646+821_646+824del ENSP00000494614.2:n.646+821_646+824del
ENST00000652672.2:c.1467_1470del ENSP00000498906.2:p.Asn490LysfsTer8
ENST00000484087.6:c.664+821_664+824del ENSP00000419481.2:n.664+821_664+824del
ENST00000700182.1:c.706+821_706+824del ENSP00000514849.1:n.706+821_706+824del
ENST00000357654.9:c.1608_1611del MANE Select ENSP00000350283.3:p.Asn537LysfsTer8
ENST00000471181.7:c.1608_1611del ENSP00000418960.2:p.Asn537LysfsTer8
ENST00000652672.1:c.1467_1470del ENSP00000498906.1:p.Asn490LysfsTer8
ENST00000352993.7:c.670+1923_670+1926del ENSP00000312236.5:n.670+1923_670+1926del
ENST00000354071.7:c.1608_1611del ENSP00000326002.7:p.Asn537LysfsTer8
ENST00000357654.7:c.1608_1611del ENSP00000350283.3:p.Asn537LysfsTer8
ENST00000412061.3:c.959_962del
ENST00000461221.5:c.*1391_*1394del ENSP00000418548.1:n.*1391_*1394del
ENST00000468300.5:c.787+821_787+824del ENSP00000417148.1:n.787+821_787+824del
ENST00000470026.5:c.1608_1611del ENSP00000419274.1:p.Asn537LysfsTer8
ENST00000471181.6:c.1608_1611del ENSP00000418960.2:p.Asn537LysfsTer8
ENST00000477152.5:c.1530_1533del ENSP00000419988.1:p.Asn511LysfsTer8
ENST00000478531.5:c.784+821_784+824del ENSP00000420412.1:n.784+821_784+824del
ENST00000484087.5:c.409+821_409+824del ENSP00000419481.1:n.409+821_409+824del
ENST00000487825.5:c.412+821_412+824del ENSP00000418212.1:n.412+821_412+824del
ENST00000491747.6:c.787+821_787+824del ENSP00000420705.2:n.787+821_787+824del
ENST00000493795.5:c.1467_1470del ENSP00000418775.1:p.Asn490LysfsTer8
ENST00000493919.5:c.646+821_646+824del ENSP00000418819.1:n.646+821_646+824del
ENST00000586385.5:c.5-29972_5-29969del ENSP00000465818.1:n.5-29972_5-29969del
ENST00000591534.5:c.-43-19402_-43-19399del ENSP00000467329.1:n.-43-19402_-43-19399del
ENST00000591849.5:c.-99+31348_-99+31351del ENSP00000465347.1:n.-99+31348_-99+31351del
ENST00000634433.1:c.1485_1488del ENSP00000489431.1:p.Asn496LysfsTer8
NM_007294.3:c.1608_1611del , LRG_292t1:c.1608_1611del NP_009225.1:p.Asn537LysfsTer8
NM_007297.3:c.1467_1470del NP_009228.2:p.Asn490LysfsTer8
NM_007298.3:c.787+821_787+824del NP_009229.2:n.787+821_787+824del
NM_007299.3:c.787+821_787+824del NP_009230.2:n.787+821_787+824del
NM_007300.3:c.1608_1611del NP_009231.2:p.Asn537LysfsTer8
NR_027676.1:n.1744_1747del
NM_007294.4:c.1608_1611del MANE Select NP_009225.1:p.Asn537LysfsTer8
NM_007297.4:c.1467_1470del NP_009228.2:p.Asn490LysfsTer8
NM_007299.4:c.787+821_787+824del NP_009230.2:n.787+821_787+824del
NM_007300.4:c.1608_1611del NP_009231.2:p.Asn537LysfsTer8
NR_027676.2:n.1785_1788del