Canonical Allele Identifier: CA001367
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 37444

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093460del , CM000679.2:g.43093460del GRCh38
NC_000017.10:g.41245477del , CM000679.1:g.41245477del GRCh37
NC_000017.9:g.38499003del NCBI36
NG_005905.2:g.124521del , LRG_292:g.124521del

Transcript Alleles

HGVS Amino-acid change
ENST00000352993.7:c.670+2383del ENSP00000312236.5:p.=
ENST00000354071.7:c.2068del ENSP00000326002.7:p.Arg691AspfsTer10
ENST00000357654.7:c.2068del ENSP00000350283.3:p.Arg691AspfsTer10
ENST00000461221.5:c.*1851del ENSP00000418548.1:p.=
ENST00000468300.5:c.787+1281del ENSP00000417148.1:p.=
ENST00000471181.6:c.2068del ENSP00000418960.2:p.Arg691AspfsTer10
ENST00000478531.5:c.784+1281del ENSP00000420412.1:p.=
ENST00000484087.5:n.409+1281del ENSP00000419481.1:p.=
ENST00000487825.5:n.412+1281del ENSP00000418212.1:p.=
ENST00000491747.6:c.787+1281del ENSP00000420705.2:p.=
ENST00000493795.5:c.1927del ENSP00000418775.1:p.Arg644AspfsTer10
ENST00000493919.5:c.646+1281del ENSP00000418819.1:p.=
ENST00000586385.5:c.5-29512del ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-18942del ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+31808del ENSP00000465347.1:p.=
ENST00000634433.1:c.1945del ENSP00000489431.1:p.Arg650AspfsTer10
NM_007294.3:c.2068del , LRG_292t1:c.2068del NP_009225.1:p.Arg691AspfsTer10
NM_007297.3:c.1927del NP_009228.2:p.Arg644AspfsTer10
NM_007298.3:c.787+1281del NP_009229.2:p.=
NM_007299.3:c.787+1281del NP_009230.2:p.=
NM_007300.3:c.2068del NP_009231.2:p.Arg691AspfsTer10
NM_007294.4:c.2068del MANE Select NP_009225.1:p.Arg691AspfsTer10
NM_007297.4:c.1927del NP_009228.2:p.Arg644AspfsTer10
NM_007299.4:c.787+1281del NP_009230.2:p.=
NM_007300.4:c.2068del NP_009231.2:p.Arg691AspfsTer10