Canonical Allele Identifier: CA002598
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 55094
dbSNP Id: rs397509135

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
ENST00000354071.8:n.4130_4133del
ENST00000461574.2:c.4066_4069del ENSP00000417241.2:p.Gln1356LysfsTer9
ENST00000470026.6:c.4066_4069del ENSP00000419274.2:p.Gln1356LysfsTer9
ENST00000473961.6:c.3940_3943del ENSP00000420201.2:p.Gln1314LysfsTer9
ENST00000476777.6:c.4063_4066del ENSP00000417554.2:p.Gln1355LysfsTer9
ENST00000477152.6:c.3988_3991del ENSP00000419988.2:p.Gln1330LysfsTer9
ENST00000478531.6:c.785-433_785-430del ENSP00000420412.2:n.785-433_785-430del
ENST00000489037.2:c.3988_3991del ENSP00000420781.2:p.Gln1330LysfsTer9
ENST00000493919.6:c.647-433_647-430del ENSP00000418819.2:n.647-433_647-430del
ENST00000494123.6:c.4066_4069del ENSP00000419103.2:p.Gln1356LysfsTer9
ENST00000497488.2:c.3178_3181del ENSP00000418986.2:p.Gln1060LysfsTer9
ENST00000618469.2:c.4066_4069del ENSP00000478114.2:p.Gln1356LysfsTer9
ENST00000634433.2:c.3943_3946del ENSP00000489431.2:p.Gln1315LysfsTer9
ENST00000644379.2:c.4066_4069del ENSP00000496570.2:p.Gln1356LysfsTer9
ENST00000644555.2:c.647-433_647-430del ENSP00000494614.2:n.647-433_647-430del
ENST00000652672.2:c.3925_3928del ENSP00000498906.2:p.Gln1309LysfsTer9
ENST00000484087.6:c.665-433_665-430del ENSP00000419481.2:n.665-433_665-430del
ENST00000700182.1:c.707-433_707-430del ENSP00000514849.1:n.707-433_707-430del
ENST00000357654.9:c.4066_4069del MANE Select ENSP00000350283.3:p.Gln1356LysfsTer9
ENST00000471181.7:c.4066_4069del ENSP00000418960.2:p.Gln1356LysfsTer9
ENST00000644379.1:c.387_390del
ENST00000352993.7:c.671-433_671-430del ENSP00000312236.5:n.671-433_671-430del
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:n.*3849_*3852del
ENST00000461574.1:c.360_363del
ENST00000468300.5:c.788-433_788-430del ENSP00000417148.1:n.788-433_788-430del
ENST00000471181.6:c.4066_4069del ENSP00000418960.2:p.Gln1356LysfsTer9
ENST00000478531.5:c.785-433_785-430del ENSP00000420412.1:n.785-433_785-430del
ENST00000484087.5:c.410-433_410-430del ENSP00000419481.1:n.410-433_410-430del
ENST00000487825.5:c.413-433_413-430del ENSP00000418212.1:n.413-433_413-430del
ENST00000491747.6:c.788-433_788-430del ENSP00000420705.2:n.788-433_788-430del
ENST00000493795.5:c.3925_3928del ENSP00000418775.1:p.Gln1309LysfsTer9
ENST00000493919.5:c.647-433_647-430del ENSP00000418819.1:n.647-433_647-430del
ENST00000586385.5:c.5-27514_5-27511del ENSP00000465818.1:n.5-27514_5-27511del
ENST00000591534.5:c.-43-16944_-43-16941del ENSP00000467329.1:n.-43-16944_-43-16941de...
ENST00000591849.5:c.-99+33806_-99+33809del ENSP00000465347.1:n.-99+33806_-99+33809de...
NM_007294.3:c.4066_4069del , LRG_292t1:c.4066_4069del NP_009225.1:p.Gln1356LysfsTer9
NM_007297.3:c.3925_3928del NP_009228.2:p.Gln1309LysfsTer9
NM_007298.3:c.788-433_788-430del NP_009229.2:n.788-433_788-430del
NM_007299.3:c.788-433_788-430del NP_009230.2:n.788-433_788-430del
NM_007300.3:c.4066_4069del NP_009231.2:p.Gln1356LysfsTer9
NR_027676.1:n.4202_4205del
NM_007294.4:c.4066_4069del MANE Select NP_009225.1:p.Gln1356LysfsTer9
NM_007297.4:c.3925_3928del NP_009228.2:p.Gln1309LysfsTer9
NM_007299.4:c.788-433_788-430del NP_009230.2:n.788-433_788-430del
NM_007300.4:c.4066_4069del NP_009231.2:p.Gln1356LysfsTer9
NR_027676.2:n.4243_4246del