Canonical Allele Identifier: CA2260770877
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43066832_43066835delinsTTTG , CM000679.2:g.43066832_43066835delinsTTTG GRCh38
NC_000017.10:g.41218849_41218852delinsTTTG , CM000679.1:g.41218849_41218852delinsTTTG GRCh37
NC_000017.9:g.38472375_38472378delinsTTTG NCBI36
NG_005905.2:g.151149_151152delinsCAAA , LRG_292:g.151149_151152delinsCAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5071+773_5071+776delinsCAAA ENSP00000417241.2:n.5071+773_5071+776delinsCAAA
ENST00000470026.6:c.5074+773_5074+776delinsCAAA ENSP00000419274.2:n.5074+773_5074+776delinsCAAA
ENST00000473961.6:c.4948+773_4948+776delinsCAAA ENSP00000420201.2:n.4948+773_4948+776delinsCAAA
ENST00000476777.6:c.5068+773_5068+776delinsCAAA ENSP00000417554.2:n.5068+773_5068+776delinsCAAA
ENST00000477152.6:c.4996+773_4996+776delinsCAAA ENSP00000419988.2:n.4996+773_4996+776delinsCAAA
ENST00000478531.6:c.1762+773_1762+776delinsCAAA ENSP00000420412.2:n.1762+773_1762+776delinsCAAA
ENST00000489037.2:c.4996+773_4996+776delinsCAAA ENSP00000420781.2:n.4996+773_4996+776delinsCAAA
ENST00000493919.6:c.1624+773_1624+776delinsCAAA ENSP00000418819.2:n.1624+773_1624+776delinsCAAA
ENST00000494123.6:c.5074+773_5074+776delinsCAAA ENSP00000419103.2:n.5074+773_5074+776delinsCAAA
ENST00000497488.2:c.4186+773_4186+776delinsCAAA ENSP00000418986.2:n.4186+773_4186+776delinsCAAA
ENST00000618469.2:c.5074+773_5074+776delinsCAAA ENSP00000478114.2:n.5074+773_5074+776delinsCAAA
ENST00000634433.2:c.4951+773_4951+776delinsCAAA ENSP00000489431.2:n.4951+773_4951+776delinsCAAA
ENST00000644379.2:c.5140+773_5140+776delinsCAAA ENSP00000496570.2:n.5140+773_5140+776delinsCAAA
ENST00000644555.2:c.1624+773_1624+776delinsCAAA ENSP00000494614.2:n.1624+773_1624+776delinsCAAA
ENST00000652672.2:c.4933+773_4933+776delinsCAAA ENSP00000498906.2:n.4933+773_4933+776delinsCAAA
ENST00000484087.6:c.1636+773_1636+776delinsCAAA ENSP00000419481.2:n.1636+773_1636+776delinsCAAA
ENST00000357654.9:c.5074+773_5074+776delinsCAAA MANE Select ENSP00000350283.3:n.5074+773_5074+776delinsCAAA
ENST00000471181.7:c.5137+773_5137+776delinsCAAA ENSP00000418960.2:n.5137+773_5137+776delinsCAAA
ENST00000644379.1:c.1461+773_1461+776delinsCAAA
ENST00000352993.7:c.1648+773_1648+776delinsCAAA ENSP00000312236.5:n.1648+773_1648+776delinsCAAA
ENST00000357654.7:c.5074+773_5074+776delinsCAAA ENSP00000350283.3:n.5074+773_5074+776delinsCAAA
ENST00000461221.5:c.*4857+773_*4857+776delinsCAAA ENSP00000418548.1:n.*4857+773_*4857+776delinsCAAA
ENST00000468300.5:c.1762+773_1762+776delinsCAAA ENSP00000417148.1:n.1762+773_1762+776delinsCAAA
ENST00000471181.6:c.5137+773_5137+776delinsCAAA ENSP00000418960.2:n.5137+773_5137+776delinsCAAA
ENST00000478531.5:c.1762+773_1762+776delinsCAAA ENSP00000420412.1:n.1762+773_1762+776delinsCAAA
ENST00000484087.5:c.1387+773_1387+776delinsCAAA ENSP00000419481.1:n.1387+773_1387+776delinsCAAA
ENST00000491747.6:c.1762+773_1762+776delinsCAAA ENSP00000420705.2:n.1762+773_1762+776delinsCAAA
ENST00000493795.5:c.4933+773_4933+776delinsCAAA ENSP00000418775.1:n.4933+773_4933+776delinsCAAA
ENST00000493919.5:c.1624+773_1624+776delinsCAAA ENSP00000418819.1:n.1624+773_1624+776delinsCAAA
ENST00000586385.5:c.5-2884_5-2881delinsCAAA ENSP00000465818.1:n.5-2884_5-2881delinsCAAA
ENST00000591534.5:c.547+773_547+776delinsCAAA ENSP00000467329.1:n.547+773_547+776delinsCAAA
ENST00000591849.5:c.-98-16645_-98-16642delinsCAAA ENSP00000465347.1:n.-98-16645_-98-16642delinsCAAA
NM_007294.3:c.5074+773_5074+776delinsCAAA , LRG_292t1:c.5074+773_5074+776delinsCAAA NP_009225.1:n.5074+773_5074+776delinsCAAA
NM_007297.3:c.4933+773_4933+776delinsCAAA NP_009228.2:n.4933+773_4933+776delinsCAAA
NM_007298.3:c.1762+773_1762+776delinsCAAA NP_009229.2:n.1762+773_1762+776delinsCAAA
NM_007299.3:c.1762+773_1762+776delinsCAAA NP_009230.2:n.1762+773_1762+776delinsCAAA
NM_007300.3:c.5137+773_5137+776delinsCAAA NP_009231.2:n.5137+773_5137+776delinsCAAA
NR_027676.1:n.5210+773_5210+776delinsCAAA
NM_007294.4:c.5074+773_5074+776delinsCAAA MANE Select NP_009225.1:n.5074+773_5074+776delinsCAAA
NM_007297.4:c.4933+773_4933+776delinsCAAA NP_009228.2:n.4933+773_4933+776delinsCAAA
NM_007299.4:c.1762+773_1762+776delinsCAAA NP_009230.2:n.1762+773_1762+776delinsCAAA
NM_007300.4:c.5137+773_5137+776delinsCAAA NP_009231.2:n.5137+773_5137+776delinsCAAA
NR_027676.2:n.5251+773_5251+776delinsCAAA