Canonical Allele Identifier: CA001001
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 54268
dbSNP Id: rs80357527

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094042del , CM000679.2:g.43094042del GRCh38
NC_000017.10:g.41246059del , CM000679.1:g.41246059del GRCh37
NC_000017.9:g.38499585del NCBI36
NG_005905.2:g.123945del , LRG_292:g.123945del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.1556del
ENST00000461574.2:c.1492del ENSP00000417241.2:p.Leu498SerfsTer5
ENST00000470026.6:c.1492del ENSP00000419274.2:p.Leu498SerfsTer5
ENST00000473961.6:c.1366del ENSP00000420201.2:p.Leu456SerfsTer5
ENST00000476777.6:c.1489del ENSP00000417554.2:p.Leu497SerfsTer5
ENST00000477152.6:c.1414del ENSP00000419988.2:p.Leu472SerfsTer5
ENST00000478531.6:c.784+705del ENSP00000420412.2:n.784+705del
ENST00000489037.2:c.1414del ENSP00000420781.2:p.Leu472SerfsTer5
ENST00000493919.6:c.646+705del ENSP00000418819.2:n.646+705del
ENST00000494123.6:c.1492del ENSP00000419103.2:p.Leu498SerfsTer5
ENST00000497488.2:c.604del ENSP00000418986.2:p.Leu202SerfsTer5
ENST00000618469.2:c.1492del ENSP00000478114.2:p.Leu498SerfsTer5
ENST00000634433.2:c.1369del ENSP00000489431.2:p.Leu457SerfsTer5
ENST00000644379.2:c.1492del ENSP00000496570.2:p.Leu498SerfsTer5
ENST00000644555.2:c.646+705del ENSP00000494614.2:n.646+705del
ENST00000652672.2:c.1351del ENSP00000498906.2:p.Leu451SerfsTer5
ENST00000484087.6:c.664+705del ENSP00000419481.2:n.664+705del
ENST00000700182.1:c.706+705del ENSP00000514849.1:n.706+705del
ENST00000700183.1:c.*1500del ENSP00000514850.1:n.*1500del
ENST00000357654.9:c.1492del MANE Select ENSP00000350283.3:p.Leu498SerfsTer5
ENST00000471181.7:c.1492del ENSP00000418960.2:p.Leu498SerfsTer5
ENST00000652672.1:c.1351del ENSP00000498906.1:p.Leu451SerfsTer5
ENST00000352993.7:c.670+1807del ENSP00000312236.5:n.670+1807del
ENST00000354071.7:c.1492del ENSP00000326002.7:p.Leu498SerfsTer5
ENST00000357654.7:c.1492del ENSP00000350283.3:p.Leu498SerfsTer5
ENST00000412061.3:c.843del
ENST00000461221.5:c.*1275del ENSP00000418548.1:n.*1275del
ENST00000468300.5:c.787+705del ENSP00000417148.1:n.787+705del
ENST00000470026.5:c.1492del ENSP00000419274.1:p.Leu498SerfsTer5
ENST00000471181.6:c.1492del ENSP00000418960.2:p.Leu498SerfsTer5
ENST00000477152.5:c.1414del ENSP00000419988.1:p.Leu472SerfsTer5
ENST00000478531.5:c.784+705del ENSP00000420412.1:n.784+705del
ENST00000484087.5:c.409+705del ENSP00000419481.1:n.409+705del
ENST00000487825.5:c.412+705del ENSP00000418212.1:n.412+705del
ENST00000491747.6:c.787+705del ENSP00000420705.2:n.787+705del
ENST00000493795.5:c.1351del ENSP00000418775.1:p.Leu451SerfsTer5
ENST00000493919.5:c.646+705del ENSP00000418819.1:n.646+705del
ENST00000586385.5:c.5-30088del ENSP00000465818.1:n.5-30088del
ENST00000591534.5:c.-43-19518del ENSP00000467329.1:n.-43-19518del
ENST00000591849.5:c.-99+31232del ENSP00000465347.1:n.-99+31232del
ENST00000634433.1:c.1369del ENSP00000489431.1:p.Leu457SerfsTer5
NM_007294.3:c.1492del , LRG_292t1:c.1492del NP_009225.1:p.Leu498SerfsTer5
NM_007297.3:c.1351del NP_009228.2:p.Leu451SerfsTer5
NM_007298.3:c.787+705del NP_009229.2:n.787+705del
NM_007299.3:c.787+705del NP_009230.2:n.787+705del
NM_007300.3:c.1492del NP_009231.2:p.Leu498SerfsTer5
NR_027676.1:n.1628del
NM_007294.4:c.1492del MANE Select NP_009225.1:p.Leu498SerfsTer5
NM_007297.4:c.1351del NP_009228.2:p.Leu451SerfsTer5
NM_007299.4:c.787+705del NP_009230.2:n.787+705del
NM_007300.4:c.1492del NP_009231.2:p.Leu498SerfsTer5
NR_027676.2:n.1669del