Canonical Allele Identifier: CA2260770850
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43066800_43066801delinsCA , CM000679.2:g.43066800_43066801delinsCA GRCh38
NC_000017.10:g.41218817_41218818delinsCA , CM000679.1:g.41218817_41218818delinsCA GRCh37
NC_000017.9:g.38472343_38472344delinsCA NCBI36
NG_005905.2:g.151183_151184delinsTG , LRG_292:g.151183_151184delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5071+807_5071+808delinsTG ENSP00000417241.2:n.5071+807_5071+808delinsTG
ENST00000470026.6:c.5074+807_5074+808delinsTG ENSP00000419274.2:n.5074+807_5074+808delinsTG
ENST00000473961.6:c.4948+807_4948+808delinsTG ENSP00000420201.2:n.4948+807_4948+808delinsTG
ENST00000476777.6:c.5068+807_5068+808delinsTG ENSP00000417554.2:n.5068+807_5068+808delinsTG
ENST00000477152.6:c.4996+807_4996+808delinsTG ENSP00000419988.2:n.4996+807_4996+808delinsTG
ENST00000478531.6:c.1762+807_1762+808delinsTG ENSP00000420412.2:n.1762+807_1762+808delinsTG
ENST00000489037.2:c.4996+807_4996+808delinsTG ENSP00000420781.2:n.4996+807_4996+808delinsTG
ENST00000493919.6:c.1624+807_1624+808delinsTG ENSP00000418819.2:n.1624+807_1624+808delinsTG
ENST00000494123.6:c.5074+807_5074+808delinsTG ENSP00000419103.2:n.5074+807_5074+808delinsTG
ENST00000497488.2:c.4186+807_4186+808delinsTG ENSP00000418986.2:n.4186+807_4186+808delinsTG
ENST00000618469.2:c.5074+807_5074+808delinsTG ENSP00000478114.2:n.5074+807_5074+808delinsTG
ENST00000634433.2:c.4951+807_4951+808delinsTG ENSP00000489431.2:n.4951+807_4951+808delinsTG
ENST00000644379.2:c.5140+807_5140+808delinsTG ENSP00000496570.2:n.5140+807_5140+808delinsTG
ENST00000644555.2:c.1624+807_1624+808delinsTG ENSP00000494614.2:n.1624+807_1624+808delinsTG
ENST00000652672.2:c.4933+807_4933+808delinsTG ENSP00000498906.2:n.4933+807_4933+808delinsTG
ENST00000484087.6:c.1636+807_1636+808delinsTG ENSP00000419481.2:n.1636+807_1636+808delinsTG
ENST00000357654.9:c.5074+807_5074+808delinsTG MANE Select ENSP00000350283.3:n.5074+807_5074+808delinsTG
ENST00000471181.7:c.5137+807_5137+808delinsTG ENSP00000418960.2:n.5137+807_5137+808delinsTG
ENST00000644379.1:c.1461+807_1461+808delinsTG
ENST00000352993.7:c.1648+807_1648+808delinsTG ENSP00000312236.5:n.1648+807_1648+808delinsTG
ENST00000357654.7:c.5074+807_5074+808delinsTG ENSP00000350283.3:n.5074+807_5074+808delinsTG
ENST00000461221.5:c.*4857+807_*4857+808delinsTG ENSP00000418548.1:n.*4857+807_*4857+808delinsTG
ENST00000468300.5:c.1762+807_1762+808delinsTG ENSP00000417148.1:n.1762+807_1762+808delinsTG
ENST00000471181.6:c.5137+807_5137+808delinsTG ENSP00000418960.2:n.5137+807_5137+808delinsTG
ENST00000478531.5:c.1762+807_1762+808delinsTG ENSP00000420412.1:n.1762+807_1762+808delinsTG
ENST00000484087.5:c.1387+807_1387+808delinsTG ENSP00000419481.1:n.1387+807_1387+808delinsTG
ENST00000491747.6:c.1762+807_1762+808delinsTG ENSP00000420705.2:n.1762+807_1762+808delinsTG
ENST00000493795.5:c.4933+807_4933+808delinsTG ENSP00000418775.1:n.4933+807_4933+808delinsTG
ENST00000493919.5:c.1624+807_1624+808delinsTG ENSP00000418819.1:n.1624+807_1624+808delinsTG
ENST00000586385.5:c.5-2850_5-2849delinsTG ENSP00000465818.1:n.5-2850_5-2849delinsTG
ENST00000591534.5:c.547+807_547+808delinsTG ENSP00000467329.1:n.547+807_547+808delinsTG
ENST00000591849.5:c.-98-16611_-98-16610delinsTG ENSP00000465347.1:n.-98-16611_-98-16610delinsTG
NM_007294.3:c.5074+807_5074+808delinsTG , LRG_292t1:c.5074+807_5074+808delinsTG NP_009225.1:n.5074+807_5074+808delinsTG
NM_007297.3:c.4933+807_4933+808delinsTG NP_009228.2:n.4933+807_4933+808delinsTG
NM_007298.3:c.1762+807_1762+808delinsTG NP_009229.2:n.1762+807_1762+808delinsTG
NM_007299.3:c.1762+807_1762+808delinsTG NP_009230.2:n.1762+807_1762+808delinsTG
NM_007300.3:c.5137+807_5137+808delinsTG NP_009231.2:n.5137+807_5137+808delinsTG
NR_027676.1:n.5210+807_5210+808delinsTG
NM_007294.4:c.5074+807_5074+808delinsTG MANE Select NP_009225.1:n.5074+807_5074+808delinsTG
NM_007297.4:c.4933+807_4933+808delinsTG NP_009228.2:n.4933+807_4933+808delinsTG
NM_007299.4:c.1762+807_1762+808delinsTG NP_009230.2:n.1762+807_1762+808delinsTG
NM_007300.4:c.5137+807_5137+808delinsTG NP_009231.2:n.5137+807_5137+808delinsTG
NR_027676.2:n.5251+807_5251+808delinsTG