Canonical Allele Identifier: CA2809539229
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43067273_43067274insTTAT , CM000679.2:g.43067273_43067274insTTAT GRCh38
NC_000017.10:g.41219290_41219291insTTAT , CM000679.1:g.41219290_41219291insTTAT GRCh37
NC_000017.9:g.38472816_38472817insTTAT NCBI36
NG_005905.2:g.150711_150712insTAAA , LRG_292:g.150711_150712insTAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5071+335_5071+336insTAAA ENSP00000417241.2:n.5071+335_5071+336insTAAA
ENST00000470026.6:c.5074+335_5074+336insTAAA ENSP00000419274.2:n.5074+335_5074+336insTAAA
ENST00000473961.6:c.4948+335_4948+336insTAAA ENSP00000420201.2:n.4948+335_4948+336insTAAA
ENST00000476777.6:c.5068+335_5068+336insTAAA ENSP00000417554.2:n.5068+335_5068+336insTAAA
ENST00000477152.6:c.4996+335_4996+336insTAAA ENSP00000419988.2:n.4996+335_4996+336insTAAA
ENST00000478531.6:c.1762+335_1762+336insTAAA ENSP00000420412.2:n.1762+335_1762+336insTAAA
ENST00000489037.2:c.4996+335_4996+336insTAAA ENSP00000420781.2:n.4996+335_4996+336insTAAA
ENST00000493919.6:c.1624+335_1624+336insTAAA ENSP00000418819.2:n.1624+335_1624+336insTAAA
ENST00000494123.6:c.5074+335_5074+336insTAAA ENSP00000419103.2:n.5074+335_5074+336insTAAA
ENST00000497488.2:c.4186+335_4186+336insTAAA ENSP00000418986.2:n.4186+335_4186+336insTAAA
ENST00000618469.2:c.5074+335_5074+336insTAAA ENSP00000478114.2:n.5074+335_5074+336insTAAA
ENST00000634433.2:c.4951+335_4951+336insTAAA ENSP00000489431.2:n.4951+335_4951+336insTAAA
ENST00000644379.2:c.5140+335_5140+336insTAAA ENSP00000496570.2:n.5140+335_5140+336insTAAA
ENST00000644555.2:c.1624+335_1624+336insTAAA ENSP00000494614.2:n.1624+335_1624+336insTAAA
ENST00000652672.2:c.4933+335_4933+336insTAAA ENSP00000498906.2:n.4933+335_4933+336insTAAA
ENST00000484087.6:c.1636+335_1636+336insTAAA ENSP00000419481.2:n.1636+335_1636+336insTAAA
ENST00000357654.9:c.5074+335_5074+336insTAAA MANE Select ENSP00000350283.3:n.5074+335_5074+336insTAAA
ENST00000471181.7:c.5137+335_5137+336insTAAA ENSP00000418960.2:n.5137+335_5137+336insTAAA
ENST00000644379.1:c.1461+335_1461+336insTAAA
ENST00000352993.7:c.1648+335_1648+336insTAAA ENSP00000312236.5:n.1648+335_1648+336insTAAA
ENST00000357654.7:c.5074+335_5074+336insTAAA ENSP00000350283.3:n.5074+335_5074+336insTAAA
ENST00000461221.5:c.*4857+335_*4857+336insTAAA ENSP00000418548.1:n.*4857+335_*4857+336insTAAA
ENST00000468300.5:c.1762+335_1762+336insTAAA ENSP00000417148.1:n.1762+335_1762+336insTAAA
ENST00000471181.6:c.5137+335_5137+336insTAAA ENSP00000418960.2:n.5137+335_5137+336insTAAA
ENST00000478531.5:c.1762+335_1762+336insTAAA ENSP00000420412.1:n.1762+335_1762+336insTAAA
ENST00000484087.5:c.1387+335_1387+336insTAAA ENSP00000419481.1:n.1387+335_1387+336insTAAA
ENST00000491747.6:c.1762+335_1762+336insTAAA ENSP00000420705.2:n.1762+335_1762+336insTAAA
ENST00000493795.5:c.4933+335_4933+336insTAAA ENSP00000418775.1:n.4933+335_4933+336insTAAA
ENST00000493919.5:c.1624+335_1624+336insTAAA ENSP00000418819.1:n.1624+335_1624+336insTAAA
ENST00000586385.5:c.5-3322_5-3321insTAAA ENSP00000465818.1:n.5-3322_5-3321insTAAA
ENST00000591534.5:c.547+335_547+336insTAAA ENSP00000467329.1:n.547+335_547+336insTAAA
ENST00000591849.5:c.-98-17083_-98-17082insTAAA ENSP00000465347.1:n.-98-17083_-98-17082insTAAA
NM_007294.3:c.5074+335_5074+336insTAAA , LRG_292t1:c.5074+335_5074+336insTAAA NP_009225.1:n.5074+335_5074+336insTAAA
NM_007297.3:c.4933+335_4933+336insTAAA NP_009228.2:n.4933+335_4933+336insTAAA
NM_007298.3:c.1762+335_1762+336insTAAA NP_009229.2:n.1762+335_1762+336insTAAA
NM_007299.3:c.1762+335_1762+336insTAAA NP_009230.2:n.1762+335_1762+336insTAAA
NM_007300.3:c.5137+335_5137+336insTAAA NP_009231.2:n.5137+335_5137+336insTAAA
NR_027676.1:n.5210+335_5210+336insTAAA
NM_007294.4:c.5074+335_5074+336insTAAA MANE Select NP_009225.1:n.5074+335_5074+336insTAAA
NM_007297.4:c.4933+335_4933+336insTAAA NP_009228.2:n.4933+335_4933+336insTAAA
NM_007299.4:c.1762+335_1762+336insTAAA NP_009230.2:n.1762+335_1762+336insTAAA
NM_007300.4:c.5137+335_5137+336insTAAA NP_009231.2:n.5137+335_5137+336insTAAA
NR_027676.2:n.5251+335_5251+336insTAAA