Canonical Allele Identifier: CA2513732050
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43066824_43066825insCTT , CM000679.2:g.43066824_43066825insCTT GRCh38
NC_000017.10:g.41218841_41218842insCTT , CM000679.1:g.41218841_41218842insCTT GRCh37
NC_000017.9:g.38472367_38472368insCTT NCBI36
NG_005905.2:g.151161_151162insGAA , LRG_292:g.151161_151162insGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5071+785_5071+786insGAA ENSP00000417241.2:n.5071+785_5071+786insGAA
ENST00000470026.6:c.5074+785_5074+786insGAA ENSP00000419274.2:n.5074+785_5074+786insGAA
ENST00000473961.6:c.4948+785_4948+786insGAA ENSP00000420201.2:n.4948+785_4948+786insGAA
ENST00000476777.6:c.5068+785_5068+786insGAA ENSP00000417554.2:n.5068+785_5068+786insGAA
ENST00000477152.6:c.4996+785_4996+786insGAA ENSP00000419988.2:n.4996+785_4996+786insGAA
ENST00000478531.6:c.1762+785_1762+786insGAA ENSP00000420412.2:n.1762+785_1762+786insGAA
ENST00000489037.2:c.4996+785_4996+786insGAA ENSP00000420781.2:n.4996+785_4996+786insGAA
ENST00000493919.6:c.1624+785_1624+786insGAA ENSP00000418819.2:n.1624+785_1624+786insGAA
ENST00000494123.6:c.5074+785_5074+786insGAA ENSP00000419103.2:n.5074+785_5074+786insGAA
ENST00000497488.2:c.4186+785_4186+786insGAA ENSP00000418986.2:n.4186+785_4186+786insGAA
ENST00000618469.2:c.5074+785_5074+786insGAA ENSP00000478114.2:n.5074+785_5074+786insGAA
ENST00000634433.2:c.4951+785_4951+786insGAA ENSP00000489431.2:n.4951+785_4951+786insGAA
ENST00000644379.2:c.5140+785_5140+786insGAA ENSP00000496570.2:n.5140+785_5140+786insGAA
ENST00000644555.2:c.1624+785_1624+786insGAA ENSP00000494614.2:n.1624+785_1624+786insGAA
ENST00000652672.2:c.4933+785_4933+786insGAA ENSP00000498906.2:n.4933+785_4933+786insGAA
ENST00000484087.6:c.1636+785_1636+786insGAA ENSP00000419481.2:n.1636+785_1636+786insGAA
ENST00000357654.9:c.5074+785_5074+786insGAA MANE Select ENSP00000350283.3:n.5074+785_5074+786insGAA
ENST00000471181.7:c.5137+785_5137+786insGAA ENSP00000418960.2:n.5137+785_5137+786insGAA
ENST00000644379.1:c.1461+785_1461+786insGAA
ENST00000352993.7:c.1648+785_1648+786insGAA ENSP00000312236.5:n.1648+785_1648+786insGAA
ENST00000357654.7:c.5074+785_5074+786insGAA ENSP00000350283.3:n.5074+785_5074+786insGAA
ENST00000461221.5:c.*4857+785_*4857+786insGAA ENSP00000418548.1:n.*4857+785_*4857+786insGAA
ENST00000468300.5:c.1762+785_1762+786insGAA ENSP00000417148.1:n.1762+785_1762+786insGAA
ENST00000471181.6:c.5137+785_5137+786insGAA ENSP00000418960.2:n.5137+785_5137+786insGAA
ENST00000478531.5:c.1762+785_1762+786insGAA ENSP00000420412.1:n.1762+785_1762+786insGAA
ENST00000484087.5:c.1387+785_1387+786insGAA ENSP00000419481.1:n.1387+785_1387+786insGAA
ENST00000491747.6:c.1762+785_1762+786insGAA ENSP00000420705.2:n.1762+785_1762+786insGAA
ENST00000493795.5:c.4933+785_4933+786insGAA ENSP00000418775.1:n.4933+785_4933+786insGAA
ENST00000493919.5:c.1624+785_1624+786insGAA ENSP00000418819.1:n.1624+785_1624+786insGAA
ENST00000586385.5:c.5-2872_5-2871insGAA ENSP00000465818.1:n.5-2872_5-2871insGAA
ENST00000591534.5:c.547+785_547+786insGAA ENSP00000467329.1:n.547+785_547+786insGAA
ENST00000591849.5:c.-98-16633_-98-16632insGAA ENSP00000465347.1:n.-98-16633_-98-16632insGAA
NM_007294.3:c.5074+785_5074+786insGAA , LRG_292t1:c.5074+785_5074+786insGAA NP_009225.1:n.5074+785_5074+786insGAA
NM_007297.3:c.4933+785_4933+786insGAA NP_009228.2:n.4933+785_4933+786insGAA
NM_007298.3:c.1762+785_1762+786insGAA NP_009229.2:n.1762+785_1762+786insGAA
NM_007299.3:c.1762+785_1762+786insGAA NP_009230.2:n.1762+785_1762+786insGAA
NM_007300.3:c.5137+785_5137+786insGAA NP_009231.2:n.5137+785_5137+786insGAA
NR_027676.1:n.5210+785_5210+786insGAA
NM_007294.4:c.5074+785_5074+786insGAA MANE Select NP_009225.1:n.5074+785_5074+786insGAA
NM_007297.4:c.4933+785_4933+786insGAA NP_009228.2:n.4933+785_4933+786insGAA
NM_007299.4:c.1762+785_1762+786insGAA NP_009230.2:n.1762+785_1762+786insGAA
NM_007300.4:c.5137+785_5137+786insGAA NP_009231.2:n.5137+785_5137+786insGAA
NR_027676.2:n.5251+785_5251+786insGAA