Canonical Allele Identifier: CA001173
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 54355
ClinVar RCV Id: RCV000257371
dbSNP Id: rs397508908

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093727del , CM000679.2:g.43093727del GRCh38
NC_000017.10:g.41245744del , CM000679.1:g.41245744del GRCh37
NC_000017.9:g.38499270del NCBI36
NG_005905.2:g.124258del , LRG_292:g.124258del

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.1805del , LRG_292t1:c.1805del NP_009225.1:p.Asn602IlefsTer10
NM_007297.3:c.1664del VV NP_009228.2:p.Asn555IlefsTer10
NM_007298.3:c.787+1018del VV NP_009229.2:p.=
NM_007299.3:c.787+1018del VV NP_009230.2:p.=
NM_007300.3:c.1805del VV NP_009231.2:p.Asn602IlefsTer10
NR_027676.1:n.1941del
ENST00000352993.7:c.670+2120del ENSP00000312236.5:p.=
ENST00000354071.7:c.1805del ENSP00000326002.7:p.Asn602IlefsTer10
ENST00000357654.7:c.1805del ENSP00000350283.3:p.Asn602IlefsTer10
ENST00000412061.3:n.1156del
ENST00000461221.5:c.*1588del ENSP00000418548.1:p.=
ENST00000468300.5:c.787+1018del ENSP00000417148.1:p.=
ENST00000470026.5:c.1805del ENSP00000419274.1:p.Asn602IlefsTer10
ENST00000471181.6:c.1805del ENSP00000418960.2:p.Asn602IlefsTer10
ENST00000477152.5:c.1727del ENSP00000419988.1:p.Asn576IlefsTer10
ENST00000478531.5:c.784+1018del ENSP00000420412.1:p.=
ENST00000484087.5:n.409+1018del ENSP00000419481.1:p.=
ENST00000487825.5:n.412+1018del ENSP00000418212.1:p.=
ENST00000491747.6:c.787+1018del ENSP00000420705.2:p.=
ENST00000493795.5:c.1664del ENSP00000418775.1:p.Asn555IlefsTer10
ENST00000493919.5:c.646+1018del ENSP00000418819.1:p.=
ENST00000586385.5:c.5-29775del ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-19205del ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+31545del ENSP00000465347.1:p.=
ENST00000634433.1:c.1682del ENSP00000489431.1:p.Asn561IlefsTer10