Canonical Allele Identifier: CA003004
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43071166_43071167del , CM000679.2:g.43071166_43071167del GRCh38
NC_000017.10:g.41223183_41223184del , CM000679.1:g.41223183_41223184del GRCh37
NC_000017.9:g.38476709_38476710del NCBI36
NG_005905.2:g.146819_146820del , LRG_292:g.146819_146820del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.4746_4747del ENSP00000417241.2:p.Arg1582SerfsTer?
ENST00000470026.6:c.4749_4750del ENSP00000419274.2:p.Arg1583SerfsTer?
ENST00000473961.6:c.4623_4624del ENSP00000420201.2:p.Arg1541SerfsTer?
ENST00000476777.6:c.4743_4744del ENSP00000417554.2:p.Arg1581SerfsTer?
ENST00000477152.6:c.4671_4672del ENSP00000419988.2:p.Arg1557SerfsTer?
ENST00000478531.6:c.1437_1438del ENSP00000420412.2:p.Arg479SerfsTer?
ENST00000489037.2:c.4671_4672del ENSP00000420781.2:p.Arg1557SerfsTer?
ENST00000493919.6:c.1299_1300del ENSP00000418819.2:p.Arg433SerfsTer?
ENST00000494123.6:c.4749_4750del ENSP00000419103.2:p.Arg1583SerfsTer?
ENST00000497488.2:c.3861_3862del ENSP00000418986.2:p.Arg1287SerfsTer?
ENST00000618469.2:c.4749_4750del ENSP00000478114.2:p.Arg1583SerfsTer?
ENST00000634433.2:c.4626_4627del ENSP00000489431.2:p.Arg1542SerfsTer?
ENST00000644379.2:c.4815_4816del ENSP00000496570.2:p.Arg1605SerfsTer?
ENST00000644555.2:c.1299_1300del ENSP00000494614.2:p.Arg433SerfsTer?
ENST00000652672.2:c.4608_4609del ENSP00000498906.2:p.Arg1536SerfsTer?
ENST00000484087.6:c.1311_1312del ENSP00000419481.2:p.Arg437SerfsTer?
ENST00000700182.1:c.1356_1357del ENSP00000514849.1:p.Arg452SerfsTer?
ENST00000357654.9:c.4749_4750del MANE Select ENSP00000350283.3:p.Arg1583SerfsTer?
ENST00000471181.7:c.4812_4813del ENSP00000418960.2:p.Arg1604SerfsTer?
ENST00000644379.1:c.1136_1137del
ENST00000352993.7:c.1323_1324del ENSP00000312236.5:p.Arg441SerfsTer?
ENST00000357654.7:c.4749_4750del ENSP00000350283.3:p.Arg1583SerfsTer?
ENST00000461221.5:c.*4532_*4533del ENSP00000418548.1:n.*4532_*4533del
ENST00000468300.5:c.1437_1438del ENSP00000417148.1:p.Arg479SerfsTer?
ENST00000471181.6:c.4812_4813del ENSP00000418960.2:p.Arg1604SerfsTer?
ENST00000478531.5:c.1437_1438del ENSP00000420412.1:p.Arg479SerfsTer?
ENST00000484087.5:c.1062_1063del ENSP00000419481.1:p.Arg354SerfsTer?
ENST00000491747.6:c.1437_1438del ENSP00000420705.2:p.Arg479SerfsTer?
ENST00000493795.5:c.4608_4609del ENSP00000418775.1:p.Arg1536SerfsTer?
ENST00000493919.5:c.1299_1300del ENSP00000418819.1:p.Arg433SerfsTer?
ENST00000586385.5:c.5-7214_5-7213del ENSP00000465818.1:n.5-7214_5-7213del
ENST00000591534.5:c.222_223del ENSP00000467329.1:p.Arg74SerfsTer?
ENST00000591849.5:c.-98-20975_-98-20974del ENSP00000465347.1:n.-98-20975_-98-20974del
NM_007294.3:c.4749_4750del , LRG_292t1:c.4749_4750del NP_009225.1:p.Arg1583SerfsTer?
NM_007297.3:c.4608_4609del NP_009228.2:p.Arg1536SerfsTer?
NM_007298.3:c.1437_1438del NP_009229.2:p.Arg479SerfsTer?
NM_007299.3:c.1437_1438del NP_009230.2:p.Arg479SerfsTer?
NM_007300.3:c.4812_4813del NP_009231.2:p.Arg1604SerfsTer?
NR_027676.1:n.4885_4886del
NM_007294.4:c.4749_4750del MANE Select NP_009225.1:p.Arg1583SerfsTer?
NM_007297.4:c.4608_4609del NP_009228.2:p.Arg1536SerfsTer?
NM_007299.4:c.1437_1438del NP_009230.2:p.Arg479SerfsTer?
NM_007300.4:c.4812_4813del NP_009231.2:p.Arg1604SerfsTer?
NR_027676.2:n.4926_4927del