Canonical Allele Identifier: CA2550301412
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43066817_43066818insCC , CM000679.2:g.43066817_43066818insCC GRCh38
NC_000017.10:g.41218834_41218835insCC , CM000679.1:g.41218834_41218835insCC GRCh37
NC_000017.9:g.38472360_38472361insCC NCBI36
NG_005905.2:g.151166_151167insGG , LRG_292:g.151166_151167insGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5071+790_5071+791insGG ENSP00000417241.2:n.5071+790_5071+791insGG
ENST00000470026.6:c.5074+790_5074+791insGG ENSP00000419274.2:n.5074+790_5074+791insGG
ENST00000473961.6:c.4948+790_4948+791insGG ENSP00000420201.2:n.4948+790_4948+791insGG
ENST00000476777.6:c.5068+790_5068+791insGG ENSP00000417554.2:n.5068+790_5068+791insGG
ENST00000477152.6:c.4996+790_4996+791insGG ENSP00000419988.2:n.4996+790_4996+791insGG
ENST00000478531.6:c.1762+790_1762+791insGG ENSP00000420412.2:n.1762+790_1762+791insGG
ENST00000489037.2:c.4996+790_4996+791insGG ENSP00000420781.2:n.4996+790_4996+791insGG
ENST00000493919.6:c.1624+790_1624+791insGG ENSP00000418819.2:n.1624+790_1624+791insGG
ENST00000494123.6:c.5074+790_5074+791insGG ENSP00000419103.2:n.5074+790_5074+791insGG
ENST00000497488.2:c.4186+790_4186+791insGG ENSP00000418986.2:n.4186+790_4186+791insGG
ENST00000618469.2:c.5074+790_5074+791insGG ENSP00000478114.2:n.5074+790_5074+791insGG
ENST00000634433.2:c.4951+790_4951+791insGG ENSP00000489431.2:n.4951+790_4951+791insGG
ENST00000644379.2:c.5140+790_5140+791insGG ENSP00000496570.2:n.5140+790_5140+791insGG
ENST00000644555.2:c.1624+790_1624+791insGG ENSP00000494614.2:n.1624+790_1624+791insGG
ENST00000652672.2:c.4933+790_4933+791insGG ENSP00000498906.2:n.4933+790_4933+791insGG
ENST00000484087.6:c.1636+790_1636+791insGG ENSP00000419481.2:n.1636+790_1636+791insGG
ENST00000357654.9:c.5074+790_5074+791insGG MANE Select ENSP00000350283.3:n.5074+790_5074+791insGG
ENST00000471181.7:c.5137+790_5137+791insGG ENSP00000418960.2:n.5137+790_5137+791insGG
ENST00000644379.1:c.1461+790_1461+791insGG
ENST00000352993.7:c.1648+790_1648+791insGG ENSP00000312236.5:n.1648+790_1648+791insGG
ENST00000357654.7:c.5074+790_5074+791insGG ENSP00000350283.3:n.5074+790_5074+791insGG
ENST00000461221.5:c.*4857+790_*4857+791insGG ENSP00000418548.1:n.*4857+790_*4857+791insGG
ENST00000468300.5:c.1762+790_1762+791insGG ENSP00000417148.1:n.1762+790_1762+791insGG
ENST00000471181.6:c.5137+790_5137+791insGG ENSP00000418960.2:n.5137+790_5137+791insGG
ENST00000478531.5:c.1762+790_1762+791insGG ENSP00000420412.1:n.1762+790_1762+791insGG
ENST00000484087.5:c.1387+790_1387+791insGG ENSP00000419481.1:n.1387+790_1387+791insGG
ENST00000491747.6:c.1762+790_1762+791insGG ENSP00000420705.2:n.1762+790_1762+791insGG
ENST00000493795.5:c.4933+790_4933+791insGG ENSP00000418775.1:n.4933+790_4933+791insGG
ENST00000493919.5:c.1624+790_1624+791insGG ENSP00000418819.1:n.1624+790_1624+791insGG
ENST00000586385.5:c.5-2867_5-2866insGG ENSP00000465818.1:n.5-2867_5-2866insGG
ENST00000591534.5:c.547+790_547+791insGG ENSP00000467329.1:n.547+790_547+791insGG
ENST00000591849.5:c.-98-16628_-98-16627insGG ENSP00000465347.1:n.-98-16628_-98-16627insGG
NM_007294.3:c.5074+790_5074+791insGG , LRG_292t1:c.5074+790_5074+791insGG NP_009225.1:n.5074+790_5074+791insGG
NM_007297.3:c.4933+790_4933+791insGG NP_009228.2:n.4933+790_4933+791insGG
NM_007298.3:c.1762+790_1762+791insGG NP_009229.2:n.1762+790_1762+791insGG
NM_007299.3:c.1762+790_1762+791insGG NP_009230.2:n.1762+790_1762+791insGG
NM_007300.3:c.5137+790_5137+791insGG NP_009231.2:n.5137+790_5137+791insGG
NR_027676.1:n.5210+790_5210+791insGG
NM_007294.4:c.5074+790_5074+791insGG MANE Select NP_009225.1:n.5074+790_5074+791insGG
NM_007297.4:c.4933+790_4933+791insGG NP_009228.2:n.4933+790_4933+791insGG
NM_007299.4:c.1762+790_1762+791insGG NP_009230.2:n.1762+790_1762+791insGG
NM_007300.4:c.5137+790_5137+791insGG NP_009231.2:n.5137+790_5137+791insGG
NR_027676.2:n.5251+790_5251+791insGG