Canonical Allele Identifier: CA001346
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 54438
dbSNP Id: rs80357626

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093513del , CM000679.2:g.43093513del GRCh38
NC_000017.10:g.41245530del , CM000679.1:g.41245530del GRCh37
NC_000017.9:g.38499056del NCBI36
NG_005905.2:g.124472del , LRG_292:g.124472del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.2083del
ENST00000461574.2:c.2019del ENSP00000417241.2:p.Glu673AspfsTer28
ENST00000470026.6:c.2019del ENSP00000419274.2:p.Glu673AspfsTer28
ENST00000473961.6:c.1893del ENSP00000420201.2:p.Glu631AspfsTer28
ENST00000476777.6:c.2016del ENSP00000417554.2:p.Glu672AspfsTer28
ENST00000477152.6:c.1941del ENSP00000419988.2:p.Glu647AspfsTer28
ENST00000478531.6:c.784+1232del ENSP00000420412.2:n.784+1232del
ENST00000489037.2:c.1941del ENSP00000420781.2:p.Glu647AspfsTer28
ENST00000493919.6:c.646+1232del ENSP00000418819.2:n.646+1232del
ENST00000494123.6:c.2019del ENSP00000419103.2:p.Glu673AspfsTer28
ENST00000497488.2:c.1131del ENSP00000418986.2:p.Glu377AspfsTer28
ENST00000618469.2:c.2019del ENSP00000478114.2:p.Glu673AspfsTer28
ENST00000634433.2:c.1896del ENSP00000489431.2:p.Glu632AspfsTer28
ENST00000644379.2:c.2019del ENSP00000496570.2:p.Glu673AspfsTer28
ENST00000644555.2:c.646+1232del ENSP00000494614.2:n.646+1232del
ENST00000652672.2:c.1878del ENSP00000498906.2:p.Glu626AspfsTer28
ENST00000484087.6:c.664+1232del ENSP00000419481.2:n.664+1232del
ENST00000700182.1:c.706+1232del ENSP00000514849.1:n.706+1232del
ENST00000357654.9:c.2019del MANE Select ENSP00000350283.3:p.Glu673AspfsTer28
ENST00000471181.7:c.2019del ENSP00000418960.2:p.Glu673AspfsTer28
ENST00000352993.7:c.670+2334del ENSP00000312236.5:n.670+2334del
ENST00000354071.7:c.2019del ENSP00000326002.7:p.Glu673AspfsTer28
ENST00000357654.7:c.2019del ENSP00000350283.3:p.Glu673AspfsTer28
ENST00000461221.5:c.*1802del ENSP00000418548.1:n.*1802del
ENST00000468300.5:c.787+1232del ENSP00000417148.1:n.787+1232del
ENST00000471181.6:c.2019del ENSP00000418960.2:p.Glu673AspfsTer28
ENST00000478531.5:c.784+1232del ENSP00000420412.1:n.784+1232del
ENST00000484087.5:c.409+1232del ENSP00000419481.1:n.409+1232del
ENST00000487825.5:c.412+1232del ENSP00000418212.1:n.412+1232del
ENST00000491747.6:c.787+1232del ENSP00000420705.2:n.787+1232del
ENST00000493795.5:c.1878del ENSP00000418775.1:p.Glu626AspfsTer28
ENST00000493919.5:c.646+1232del ENSP00000418819.1:n.646+1232del
ENST00000586385.5:c.5-29561del ENSP00000465818.1:n.5-29561del
ENST00000591534.5:c.-43-18991del ENSP00000467329.1:n.-43-18991del
ENST00000591849.5:c.-99+31759del ENSP00000465347.1:n.-99+31759del
ENST00000634433.1:c.1896del ENSP00000489431.1:p.Glu632AspfsTer28
NM_007294.3:c.2019del , LRG_292t1:c.2019del NP_009225.1:p.Glu673AspfsTer28
NM_007297.3:c.1878del NP_009228.2:p.Glu626AspfsTer28
NM_007298.3:c.787+1232del NP_009229.2:n.787+1232del
NM_007299.3:c.787+1232del NP_009230.2:n.787+1232del
NM_007300.3:c.2019del NP_009231.2:p.Glu673AspfsTer28
NR_027676.1:n.2155del
NM_007294.4:c.2019del MANE Select NP_009225.1:p.Glu673AspfsTer28
NM_007297.4:c.1878del NP_009228.2:p.Glu626AspfsTer28
NM_007299.4:c.787+1232del NP_009230.2:n.787+1232del
NM_007300.4:c.2019del NP_009231.2:p.Glu673AspfsTer28
NR_027676.2:n.2196del