Canonical Allele Identifier: CA2260770861
Gene: BRCA1 HGNC NCBI

Linked Data

dbSNP Id: rs2052094981

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43066810_43066811insT , CM000679.2:g.43066810_43066811insT GRCh38
NC_000017.10:g.41218827_41218828insT , CM000679.1:g.41218827_41218828insT GRCh37
NC_000017.9:g.38472353_38472354insT NCBI36
NG_005905.2:g.151173_151174insA , LRG_292:g.151173_151174insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5071+797_5071+798insA ENSP00000417241.2:n.5071+797_5071+798insA
ENST00000470026.6:c.5074+797_5074+798insA ENSP00000419274.2:n.5074+797_5074+798insA
ENST00000473961.6:c.4948+797_4948+798insA ENSP00000420201.2:n.4948+797_4948+798insA
ENST00000476777.6:c.5068+797_5068+798insA ENSP00000417554.2:n.5068+797_5068+798insA
ENST00000477152.6:c.4996+797_4996+798insA ENSP00000419988.2:n.4996+797_4996+798insA
ENST00000478531.6:c.1762+797_1762+798insA ENSP00000420412.2:n.1762+797_1762+798insA
ENST00000489037.2:c.4996+797_4996+798insA ENSP00000420781.2:n.4996+797_4996+798insA
ENST00000493919.6:c.1624+797_1624+798insA ENSP00000418819.2:n.1624+797_1624+798insA
ENST00000494123.6:c.5074+797_5074+798insA ENSP00000419103.2:n.5074+797_5074+798insA
ENST00000497488.2:c.4186+797_4186+798insA ENSP00000418986.2:n.4186+797_4186+798insA
ENST00000618469.2:c.5074+797_5074+798insA ENSP00000478114.2:n.5074+797_5074+798insA
ENST00000634433.2:c.4951+797_4951+798insA ENSP00000489431.2:n.4951+797_4951+798insA
ENST00000644379.2:c.5140+797_5140+798insA ENSP00000496570.2:n.5140+797_5140+798insA
ENST00000644555.2:c.1624+797_1624+798insA ENSP00000494614.2:n.1624+797_1624+798insA
ENST00000652672.2:c.4933+797_4933+798insA ENSP00000498906.2:n.4933+797_4933+798insA
ENST00000484087.6:c.1636+797_1636+798insA ENSP00000419481.2:n.1636+797_1636+798insA
ENST00000357654.9:c.5074+797_5074+798insA MANE Select ENSP00000350283.3:n.5074+797_5074+798insA
ENST00000471181.7:c.5137+797_5137+798insA ENSP00000418960.2:n.5137+797_5137+798insA
ENST00000644379.1:c.1461+797_1461+798insA
ENST00000352993.7:c.1648+797_1648+798insA ENSP00000312236.5:n.1648+797_1648+798insA
ENST00000357654.7:c.5074+797_5074+798insA ENSP00000350283.3:n.5074+797_5074+798insA
ENST00000461221.5:c.*4857+797_*4857+798insA ENSP00000418548.1:n.*4857+797_*4857+798insA
ENST00000468300.5:c.1762+797_1762+798insA ENSP00000417148.1:n.1762+797_1762+798insA
ENST00000471181.6:c.5137+797_5137+798insA ENSP00000418960.2:n.5137+797_5137+798insA
ENST00000478531.5:c.1762+797_1762+798insA ENSP00000420412.1:n.1762+797_1762+798insA
ENST00000484087.5:c.1387+797_1387+798insA ENSP00000419481.1:n.1387+797_1387+798insA
ENST00000491747.6:c.1762+797_1762+798insA ENSP00000420705.2:n.1762+797_1762+798insA
ENST00000493795.5:c.4933+797_4933+798insA ENSP00000418775.1:n.4933+797_4933+798insA
ENST00000493919.5:c.1624+797_1624+798insA ENSP00000418819.1:n.1624+797_1624+798insA
ENST00000586385.5:c.5-2860_5-2859insA ENSP00000465818.1:n.5-2860_5-2859insA
ENST00000591534.5:c.547+797_547+798insA ENSP00000467329.1:n.547+797_547+798insA
ENST00000591849.5:c.-98-16621_-98-16620insA ENSP00000465347.1:n.-98-16621_-98-16620insA
NM_007294.3:c.5074+797_5074+798insA , LRG_292t1:c.5074+797_5074+798insA NP_009225.1:n.5074+797_5074+798insA
NM_007297.3:c.4933+797_4933+798insA NP_009228.2:n.4933+797_4933+798insA
NM_007298.3:c.1762+797_1762+798insA NP_009229.2:n.1762+797_1762+798insA
NM_007299.3:c.1762+797_1762+798insA NP_009230.2:n.1762+797_1762+798insA
NM_007300.3:c.5137+797_5137+798insA NP_009231.2:n.5137+797_5137+798insA
NR_027676.1:n.5210+797_5210+798insA
NM_007294.4:c.5074+797_5074+798insA MANE Select NP_009225.1:n.5074+797_5074+798insA
NM_007297.4:c.4933+797_4933+798insA NP_009228.2:n.4933+797_4933+798insA
NM_007299.4:c.1762+797_1762+798insA NP_009230.2:n.1762+797_1762+798insA
NM_007300.4:c.5137+797_5137+798insA NP_009231.2:n.5137+797_5137+798insA
NR_027676.2:n.5251+797_5251+798insA