Canonical Allele Identifier: CA983876788
Gene: BRCA1 HGNC NCBI

Linked Data

dbSNP Id: rs2153688826

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43067489_43067490insAG , CM000679.2:g.43067489_43067490insAG GRCh38
NC_000017.10:g.41219506_41219507insAG , CM000679.1:g.41219506_41219507insAG GRCh37
NC_000017.9:g.38473032_38473033insAG NCBI36
NG_005905.2:g.150494_150495insCT , LRG_292:g.150494_150495insCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5071+118_5071+119insCT ENSP00000417241.2:n.5071+118_5071+119insCT
ENST00000470026.6:c.5074+118_5074+119insCT ENSP00000419274.2:n.5074+118_5074+119insCT
ENST00000473961.6:c.4948+118_4948+119insCT ENSP00000420201.2:n.4948+118_4948+119insCT
ENST00000476777.6:c.5068+118_5068+119insCT ENSP00000417554.2:n.5068+118_5068+119insCT
ENST00000477152.6:c.4996+118_4996+119insCT ENSP00000419988.2:n.4996+118_4996+119insCT
ENST00000478531.6:c.1762+118_1762+119insCT ENSP00000420412.2:n.1762+118_1762+119insCT
ENST00000489037.2:c.4996+118_4996+119insCT ENSP00000420781.2:n.4996+118_4996+119insCT
ENST00000493919.6:c.1624+118_1624+119insCT ENSP00000418819.2:n.1624+118_1624+119insCT
ENST00000494123.6:c.5074+118_5074+119insCT ENSP00000419103.2:n.5074+118_5074+119insCT
ENST00000497488.2:c.4186+118_4186+119insCT ENSP00000418986.2:n.4186+118_4186+119insCT
ENST00000618469.2:c.5074+118_5074+119insCT ENSP00000478114.2:n.5074+118_5074+119insCT
ENST00000634433.2:c.4951+118_4951+119insCT ENSP00000489431.2:n.4951+118_4951+119insCT
ENST00000644379.2:c.5140+118_5140+119insCT ENSP00000496570.2:n.5140+118_5140+119insCT
ENST00000644555.2:c.1624+118_1624+119insCT ENSP00000494614.2:n.1624+118_1624+119insCT
ENST00000652672.2:c.4933+118_4933+119insCT ENSP00000498906.2:n.4933+118_4933+119insCT
ENST00000484087.6:c.1636+118_1636+119insCT ENSP00000419481.2:n.1636+118_1636+119insCT
ENST00000357654.9:c.5074+118_5074+119insCT MANE Select ENSP00000350283.3:n.5074+118_5074+119insCT
ENST00000471181.7:c.5137+118_5137+119insCT ENSP00000418960.2:n.5137+118_5137+119insCT
ENST00000644379.1:c.1461+118_1461+119insCT
ENST00000352993.7:c.1648+118_1648+119insCT ENSP00000312236.5:n.1648+118_1648+119insCT
ENST00000357654.7:c.5074+118_5074+119insCT ENSP00000350283.3:n.5074+118_5074+119insCT
ENST00000461221.5:c.*4857+118_*4857+119insCT ENSP00000418548.1:n.*4857+118_*4857+119insCT
ENST00000468300.5:c.1762+118_1762+119insCT ENSP00000417148.1:n.1762+118_1762+119insCT
ENST00000471181.6:c.5137+118_5137+119insCT ENSP00000418960.2:n.5137+118_5137+119insCT
ENST00000472490.1:n.345_346insCT
ENST00000478531.5:c.1762+118_1762+119insCT ENSP00000420412.1:n.1762+118_1762+119insCT
ENST00000484087.5:c.1387+118_1387+119insCT ENSP00000419481.1:n.1387+118_1387+119insCT
ENST00000491747.6:c.1762+118_1762+119insCT ENSP00000420705.2:n.1762+118_1762+119insCT
ENST00000493795.5:c.4933+118_4933+119insCT ENSP00000418775.1:n.4933+118_4933+119insCT
ENST00000493919.5:c.1624+118_1624+119insCT ENSP00000418819.1:n.1624+118_1624+119insCT
ENST00000586385.5:c.5-3539_5-3538insCT ENSP00000465818.1:n.5-3539_5-3538insCT
ENST00000591534.5:c.547+118_547+119insCT ENSP00000467329.1:n.547+118_547+119insCT
ENST00000591849.5:c.-98-17300_-98-17299insCT ENSP00000465347.1:n.-98-17300_-98-17299insCT
NM_007294.3:c.5074+118_5074+119insCT , LRG_292t1:c.5074+118_5074+119insCT NP_009225.1:n.5074+118_5074+119insCT
NM_007297.3:c.4933+118_4933+119insCT NP_009228.2:n.4933+118_4933+119insCT
NM_007298.3:c.1762+118_1762+119insCT NP_009229.2:n.1762+118_1762+119insCT
NM_007299.3:c.1762+118_1762+119insCT NP_009230.2:n.1762+118_1762+119insCT
NM_007300.3:c.5137+118_5137+119insCT NP_009231.2:n.5137+118_5137+119insCT
NR_027676.1:n.5210+118_5210+119insCT
NM_007294.4:c.5074+118_5074+119insCT MANE Select NP_009225.1:n.5074+118_5074+119insCT
NM_007297.4:c.4933+118_4933+119insCT NP_009228.2:n.4933+118_4933+119insCT
NM_007299.4:c.1762+118_1762+119insCT NP_009230.2:n.1762+118_1762+119insCT
NM_007300.4:c.5137+118_5137+119insCT NP_009231.2:n.5137+118_5137+119insCT
NR_027676.2:n.5251+118_5251+119insCT