Canonical Allele Identifier: CA2573154089
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1457027
ClinVar RCV Id: RCV001947031
dbSNP Id: rs2154340752

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092395_43092396insCAGTAGTT , CM000679.2:g.43092395_43092396insCAGTAGTT GRCh38
NC_000017.10:g.41244412_41244413insCAGTAGTT , CM000679.1:g.41244412_41244413insCAGTAGTT GRCh37
NC_000017.9:g.38497938_38497939insCAGTAGTT NCBI36
NG_005905.2:g.125588_125589insAACTACTG , LRG_292:g.125588_125589insAACTACTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3199_3200insAACTACTG
ENST00000461574.2:c.3135_3136insAACTACTG ENSP00000417241.2:p.Glu1046AsnfsTer5
ENST00000470026.6:c.3135_3136insAACTACTG ENSP00000419274.2:p.Glu1046AsnfsTer5
ENST00000473961.6:c.3009_3010insAACTACTG ENSP00000420201.2:p.Glu1004AsnfsTer5
ENST00000476777.6:c.3132_3133insAACTACTG ENSP00000417554.2:p.Glu1045AsnfsTer5
ENST00000477152.6:c.3057_3058insAACTACTG ENSP00000419988.2:p.Glu1020AsnfsTer5
ENST00000478531.6:c.785-1364_785-1363insAACTACTG ENSP00000420412.2:n.785-1364_785-1363insAACTACTG
ENST00000489037.2:c.3057_3058insAACTACTG ENSP00000420781.2:p.Glu1020AsnfsTer5
ENST00000493919.6:c.647-1364_647-1363insAACTACTG ENSP00000418819.2:n.647-1364_647-1363insAACTACTG
ENST00000494123.6:c.3135_3136insAACTACTG ENSP00000419103.2:p.Glu1046AsnfsTer5
ENST00000497488.2:c.2247_2248insAACTACTG ENSP00000418986.2:p.Glu750AsnfsTer5
ENST00000618469.2:c.3135_3136insAACTACTG ENSP00000478114.2:p.Glu1046AsnfsTer5
ENST00000634433.2:c.3012_3013insAACTACTG ENSP00000489431.2:p.Glu1005AsnfsTer5
ENST00000644379.2:c.3135_3136insAACTACTG ENSP00000496570.2:p.Glu1046AsnfsTer5
ENST00000644555.2:c.647-1364_647-1363insAACTACTG ENSP00000494614.2:n.647-1364_647-1363insAACTACTG
ENST00000652672.2:c.2994_2995insAACTACTG ENSP00000498906.2:p.Glu999AsnfsTer5
ENST00000484087.6:c.665-1364_665-1363insAACTACTG ENSP00000419481.2:n.665-1364_665-1363insAACTACTG
ENST00000700182.1:c.707-1364_707-1363insAACTACTG ENSP00000514849.1:n.707-1364_707-1363insAACTACTG
ENST00000357654.9:c.3135_3136insAACTACTG MANE Select ENSP00000350283.3:p.Glu1046AsnfsTer5
ENST00000471181.7:c.3135_3136insAACTACTG ENSP00000418960.2:p.Glu1046AsnfsTer5
ENST00000352993.7:c.671-1364_671-1363insAACTACTG ENSP00000312236.5:n.671-1364_671-1363insAACTACTG
ENST00000354071.7:c.3135_3136insAACTACTG ENSP00000326002.7:p.Glu1046AsnfsTer5
ENST00000357654.7:c.3135_3136insAACTACTG ENSP00000350283.3:p.Glu1046AsnfsTer5
ENST00000461221.5:c.*2918_*2919insAACTACTG ENSP00000418548.1:n.*2918_*2919insAACTACTG
ENST00000468300.5:c.788-1364_788-1363insAACTACTG ENSP00000417148.1:n.788-1364_788-1363insAACTACTG
ENST00000471181.6:c.3135_3136insAACTACTG ENSP00000418960.2:p.Glu1046AsnfsTer5
ENST00000478531.5:c.785-1364_785-1363insAACTACTG ENSP00000420412.1:n.785-1364_785-1363insAACTACTG
ENST00000484087.5:c.410-1364_410-1363insAACTACTG ENSP00000419481.1:n.410-1364_410-1363insAACTACTG
ENST00000487825.5:c.413-1364_413-1363insAACTACTG ENSP00000418212.1:n.413-1364_413-1363insAACTACTG
ENST00000491747.6:c.788-1364_788-1363insAACTACTG ENSP00000420705.2:n.788-1364_788-1363insAACTACTG
ENST00000493795.5:c.2994_2995insAACTACTG ENSP00000418775.1:p.Glu999AsnfsTer5
ENST00000493919.5:c.647-1364_647-1363insAACTACTG ENSP00000418819.1:n.647-1364_647-1363insAACTACTG
ENST00000586385.5:c.5-28445_5-28444insAACTACTG ENSP00000465818.1:n.5-28445_5-28444insAACTACTG
ENST00000591534.5:c.-43-17875_-43-17874insAACTACTG ENSP00000467329.1:n.-43-17875_-43-17874insAACTACTG
ENST00000591849.5:c.-99+32875_-99+32876insAACTACTG ENSP00000465347.1:n.-99+32875_-99+32876insAACTACTG
NM_007294.3:c.3135_3136insAACTACTG , LRG_292t1:c.3135_3136insAACTACTG NP_009225.1:p.Glu1046AsnfsTer5
NM_007297.3:c.2994_2995insAACTACTG NP_009228.2:p.Glu999AsnfsTer5
NM_007298.3:c.788-1364_788-1363insAACTACTG NP_009229.2:n.788-1364_788-1363insAACTACTG
NM_007299.3:c.788-1364_788-1363insAACTACTG NP_009230.2:n.788-1364_788-1363insAACTACTG
NM_007300.3:c.3135_3136insAACTACTG NP_009231.2:p.Glu1046AsnfsTer5
NR_027676.1:n.3271_3272insAACTACTG
NM_007294.4:c.3135_3136insAACTACTG MANE Select NP_009225.1:p.Glu1046AsnfsTer5
NM_007297.4:c.2994_2995insAACTACTG NP_009228.2:p.Glu999AsnfsTer5
NM_007299.4:c.788-1364_788-1363insAACTACTG NP_009230.2:n.788-1364_788-1363insAACTACTG
NM_007300.4:c.3135_3136insAACTACTG NP_009231.2:p.Glu1046AsnfsTer5
NR_027676.2:n.3312_3313insAACTACTG