Canonical Allele Identifier: CA645373158
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 431272
dbSNP Id: rs1135401882

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43063935del , CM000679.2:g.43063935del GRCh38
NC_000017.10:g.41215952del , CM000679.1:g.41215952del GRCh37
NC_000017.9:g.38469478del NCBI36
NG_005905.2:g.154049del , LRG_292:g.154049del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5088del ENSP00000417241.2:p.Cys1696TrpfsTer5
ENST00000470026.6:c.5091del ENSP00000419274.2:p.Cys1697TrpfsTer5
ENST00000473961.6:c.4965del ENSP00000420201.2:p.Cys1655TrpfsTer5
ENST00000476777.6:c.5085del ENSP00000417554.2:p.Cys1695TrpfsTer5
ENST00000477152.6:c.5013del ENSP00000419988.2:p.Cys1671TrpfsTer5
ENST00000478531.6:c.1779del ENSP00000420412.2:p.Cys593TrpfsTer5
ENST00000489037.2:c.5013del ENSP00000420781.2:p.Cys1671TrpfsTer5
ENST00000493919.6:c.1641del ENSP00000418819.2:p.Cys547TrpfsTer5
ENST00000494123.6:c.5091del ENSP00000419103.2:p.Cys1697TrpfsTer5
ENST00000497488.2:c.4203del ENSP00000418986.2:p.Cys1401TrpfsTer5
ENST00000618469.2:c.5091del ENSP00000478114.2:p.Cys1697TrpfsTer5
ENST00000634433.2:c.4968del ENSP00000489431.2:p.Cys1656TrpfsTer5
ENST00000644379.2:c.5157del ENSP00000496570.2:p.Cys1719TrpfsTer5
ENST00000644555.2:c.1641del ENSP00000494614.2:p.Cys547TrpfsTer5
ENST00000652672.2:c.4950del ENSP00000498906.2:p.Cys1650TrpfsTer5
ENST00000484087.6:c.1653del ENSP00000419481.2:p.Cys551TrpfsTer5
ENST00000357654.9:c.5091del MANE Select ENSP00000350283.3:p.Cys1697TrpfsTer5
ENST00000471181.7:c.5154del ENSP00000418960.2:p.Cys1718TrpfsTer5
ENST00000644379.1:c.1478del
ENST00000352993.7:c.1665del ENSP00000312236.5:p.Cys555TrpfsTer5
ENST00000357654.7:c.5091del ENSP00000350283.3:p.Cys1697TrpfsTer5
ENST00000461221.5:c.*4874del ENSP00000418548.1:n.*4874del
ENST00000468300.5:c.1779del ENSP00000417148.1:p.Cys593TrpfsTer5
ENST00000471181.6:c.5154del ENSP00000418960.2:p.Cys1718TrpfsTer5
ENST00000478531.5:c.1779del ENSP00000420412.1:p.Cys593TrpfsTer5
ENST00000484087.5:c.1404del ENSP00000419481.1:p.Cys468TrpfsTer5
ENST00000491747.6:c.1779del ENSP00000420705.2:p.Cys593TrpfsTer5
ENST00000493795.5:c.4950del ENSP00000418775.1:p.Cys1650TrpfsTer5
ENST00000493919.5:c.1641del ENSP00000418819.1:p.Cys547TrpfsTer5
ENST00000586385.5:c.21del ENSP00000465818.1:p.Cys7TrpfsTer5
ENST00000591534.5:c.564del ENSP00000467329.1:p.Cys188TrpfsTer5
ENST00000591849.5:c.-98-13745del ENSP00000465347.1:n.-98-13745del
NM_007294.3:c.5091del , LRG_292t1:c.5091del NP_009225.1:p.Cys1697TrpfsTer5
NM_007297.3:c.4950del NP_009228.2:p.Cys1650TrpfsTer5
NM_007298.3:c.1779del NP_009229.2:p.Cys593TrpfsTer5
NM_007299.3:c.1779del NP_009230.2:p.Cys593TrpfsTer5
NM_007300.3:c.5154del NP_009231.2:p.Cys1718TrpfsTer5
NR_027676.1:n.5227del
NM_007294.4:c.5091del MANE Select NP_009225.1:p.Cys1697TrpfsTer5
NM_007297.4:c.4950del NP_009228.2:p.Cys1650TrpfsTer5
NM_007299.4:c.1779del NP_009230.2:p.Cys593TrpfsTer5
NM_007300.4:c.5154del NP_009231.2:p.Cys1718TrpfsTer5
NR_027676.2:n.5268del