Canonical Allele Identifier: CA2260770875
Gene: BRCA1 HGNC NCBI

Linked Data

dbSNP Id: rs2052097559

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43066821_43066822insG , CM000679.2:g.43066821_43066822insG GRCh38
NC_000017.10:g.41218838_41218839insG , CM000679.1:g.41218838_41218839insG GRCh37
NC_000017.9:g.38472364_38472365insG NCBI36
NG_005905.2:g.151162_151163insC , LRG_292:g.151162_151163insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5071+786_5071+787insC ENSP00000417241.2:n.5071+786_5071+787insC
ENST00000470026.6:c.5074+786_5074+787insC ENSP00000419274.2:n.5074+786_5074+787insC
ENST00000473961.6:c.4948+786_4948+787insC ENSP00000420201.2:n.4948+786_4948+787insC
ENST00000476777.6:c.5068+786_5068+787insC ENSP00000417554.2:n.5068+786_5068+787insC
ENST00000477152.6:c.4996+786_4996+787insC ENSP00000419988.2:n.4996+786_4996+787insC
ENST00000478531.6:c.1762+786_1762+787insC ENSP00000420412.2:n.1762+786_1762+787insC
ENST00000489037.2:c.4996+786_4996+787insC ENSP00000420781.2:n.4996+786_4996+787insC
ENST00000493919.6:c.1624+786_1624+787insC ENSP00000418819.2:n.1624+786_1624+787insC
ENST00000494123.6:c.5074+786_5074+787insC ENSP00000419103.2:n.5074+786_5074+787insC
ENST00000497488.2:c.4186+786_4186+787insC ENSP00000418986.2:n.4186+786_4186+787insC
ENST00000618469.2:c.5074+786_5074+787insC ENSP00000478114.2:n.5074+786_5074+787insC
ENST00000634433.2:c.4951+786_4951+787insC ENSP00000489431.2:n.4951+786_4951+787insC
ENST00000644379.2:c.5140+786_5140+787insC ENSP00000496570.2:n.5140+786_5140+787insC
ENST00000644555.2:c.1624+786_1624+787insC ENSP00000494614.2:n.1624+786_1624+787insC
ENST00000652672.2:c.4933+786_4933+787insC ENSP00000498906.2:n.4933+786_4933+787insC
ENST00000484087.6:c.1636+786_1636+787insC ENSP00000419481.2:n.1636+786_1636+787insC
ENST00000357654.9:c.5074+786_5074+787insC MANE Select ENSP00000350283.3:n.5074+786_5074+787insC
ENST00000471181.7:c.5137+786_5137+787insC ENSP00000418960.2:n.5137+786_5137+787insC
ENST00000644379.1:c.1461+786_1461+787insC
ENST00000352993.7:c.1648+786_1648+787insC ENSP00000312236.5:n.1648+786_1648+787insC
ENST00000357654.7:c.5074+786_5074+787insC ENSP00000350283.3:n.5074+786_5074+787insC
ENST00000461221.5:c.*4857+786_*4857+787insC ENSP00000418548.1:n.*4857+786_*4857+787insC
ENST00000468300.5:c.1762+786_1762+787insC ENSP00000417148.1:n.1762+786_1762+787insC
ENST00000471181.6:c.5137+786_5137+787insC ENSP00000418960.2:n.5137+786_5137+787insC
ENST00000478531.5:c.1762+786_1762+787insC ENSP00000420412.1:n.1762+786_1762+787insC
ENST00000484087.5:c.1387+786_1387+787insC ENSP00000419481.1:n.1387+786_1387+787insC
ENST00000491747.6:c.1762+786_1762+787insC ENSP00000420705.2:n.1762+786_1762+787insC
ENST00000493795.5:c.4933+786_4933+787insC ENSP00000418775.1:n.4933+786_4933+787insC
ENST00000493919.5:c.1624+786_1624+787insC ENSP00000418819.1:n.1624+786_1624+787insC
ENST00000586385.5:c.5-2871_5-2870insC ENSP00000465818.1:n.5-2871_5-2870insC
ENST00000591534.5:c.547+786_547+787insC ENSP00000467329.1:n.547+786_547+787insC
ENST00000591849.5:c.-98-16632_-98-16631insC ENSP00000465347.1:n.-98-16632_-98-16631insC
NM_007294.3:c.5074+786_5074+787insC , LRG_292t1:c.5074+786_5074+787insC NP_009225.1:n.5074+786_5074+787insC
NM_007297.3:c.4933+786_4933+787insC NP_009228.2:n.4933+786_4933+787insC
NM_007298.3:c.1762+786_1762+787insC NP_009229.2:n.1762+786_1762+787insC
NM_007299.3:c.1762+786_1762+787insC NP_009230.2:n.1762+786_1762+787insC
NM_007300.3:c.5137+786_5137+787insC NP_009231.2:n.5137+786_5137+787insC
NR_027676.1:n.5210+786_5210+787insC
NM_007294.4:c.5074+786_5074+787insC MANE Select NP_009225.1:n.5074+786_5074+787insC
NM_007297.4:c.4933+786_4933+787insC NP_009228.2:n.4933+786_4933+787insC
NM_007299.4:c.1762+786_1762+787insC NP_009230.2:n.1762+786_1762+787insC
NM_007300.4:c.5137+786_5137+787insC NP_009231.2:n.5137+786_5137+787insC
NR_027676.2:n.5251+786_5251+787insC