Canonical Allele Identifier: CA002598
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 55094
dbSNP Id: rs397509135

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091462_43091465del , CM000679.2:g.43091462_43091465del GRCh38
NC_000017.10:g.41243479_41243482del , CM000679.1:g.41243479_41243482del GRCh37
NC_000017.9:g.38497005_38497008del NCBI36
NG_005905.2:g.126519_126522del , LRG_292:g.126519_126522del

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.4066_4069del , LRG_292t1:c.4066_4069del NP_009225.1:p.Gln1356LysfsTer9
NM_007297.3:c.3925_3928del VV NP_009228.2:p.Gln1309LysfsTer9
NM_007298.3:c.788-433_788-430del VV NP_009229.2:p.=
NM_007299.3:c.788-433_788-430del VV NP_009230.2:p.=
NM_007300.3:c.4066_4069del VV NP_009231.2:p.Gln1356LysfsTer9
NR_027676.1:n.4202_4205del
ENST00000352993.7:c.671-433_671-430del ENSP00000312236.5:p.=
ENST00000354071.7:c.4066_4069del ENSP00000326002.7:p.Gln1356LysfsTer9
ENST00000357654.7:c.4066_4069del ENSP00000350283.3:p.Gln1356LysfsTer9
ENST00000461221.5:c.*3849_*3852del ENSP00000418548.1:p.=
ENST00000461574.1:n.360_363del
ENST00000468300.5:c.788-433_788-430del ENSP00000417148.1:p.=
ENST00000471181.6:c.4066_4069del ENSP00000418960.2:p.Gln1356LysfsTer9
ENST00000478531.5:c.785-433_785-430del ENSP00000420412.1:p.=
ENST00000484087.5:n.410-433_410-430del ENSP00000419481.1:p.=
ENST00000487825.5:n.413-433_413-430del ENSP00000418212.1:p.=
ENST00000491747.6:c.788-433_788-430del ENSP00000420705.2:p.=
ENST00000493795.5:c.3925_3928del ENSP00000418775.1:p.Gln1309LysfsTer9
ENST00000493919.5:c.647-433_647-430del ENSP00000418819.1:p.=
ENST00000586385.5:c.5-27514_5-27511del ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-16944_-43-16941del ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+33806_-99+33809del ENSP00000465347.1:p.=