Canonical Allele Identifier: CA10580576
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 233035
dbSNP Id: rs876660145

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092361_43092402del , CM000679.2:g.43092361_43092402del GRCh38
NC_000017.10:g.41244378_41244419del , CM000679.1:g.41244378_41244419del GRCh37
NC_000017.9:g.38497904_38497945del NCBI36
NG_005905.2:g.125592_125633del , LRG_292:g.125592_125633del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3203_3244del
ENST00000461574.2:c.3139_3180del ENSP00000417241.2:p.Val1047_Glu1060del
ENST00000470026.6:c.3139_3180del ENSP00000419274.2:p.Val1047_Glu1060del
ENST00000473961.6:c.3013_3054del ENSP00000420201.2:p.Val1005_Glu1018del
ENST00000476777.6:c.3136_3177del ENSP00000417554.2:p.Val1046_Glu1059del
ENST00000477152.6:c.3061_3102del ENSP00000419988.2:p.Val1021_Glu1034del
ENST00000478531.6:c.785-1360_785-1319del ENSP00000420412.2:n.785-1360_785-1319del
ENST00000489037.2:c.3061_3102del ENSP00000420781.2:p.Val1021_Glu1034del
ENST00000493919.6:c.647-1360_647-1319del ENSP00000418819.2:n.647-1360_647-1319del
ENST00000494123.6:c.3139_3180del ENSP00000419103.2:p.Val1047_Glu1060del
ENST00000497488.2:c.2251_2292del ENSP00000418986.2:p.Val751_Glu764del
ENST00000618469.2:c.3139_3180del ENSP00000478114.2:p.Val1047_Glu1060del
ENST00000634433.2:c.3016_3057del ENSP00000489431.2:p.Val1006_Glu1019del
ENST00000644379.2:c.3139_3180del ENSP00000496570.2:p.Val1047_Glu1060del
ENST00000644555.2:c.647-1360_647-1319del ENSP00000494614.2:n.647-1360_647-1319del
ENST00000652672.2:c.2998_3039del ENSP00000498906.2:p.Val1000_Glu1013del
ENST00000484087.6:c.665-1360_665-1319del ENSP00000419481.2:n.665-1360_665-1319del
ENST00000700182.1:c.707-1360_707-1319del ENSP00000514849.1:n.707-1360_707-1319del
ENST00000357654.9:c.3139_3180del MANE Select ENSP00000350283.3:p.Val1047_Glu1060del
ENST00000471181.7:c.3139_3180del ENSP00000418960.2:p.Val1047_Glu1060del
ENST00000352993.7:c.671-1360_671-1319del ENSP00000312236.5:n.671-1360_671-1319del
ENST00000354071.7:c.3139_3180del ENSP00000326002.7:p.Val1047_Glu1060del
ENST00000357654.7:c.3139_3180del ENSP00000350283.3:p.Val1047_Glu1060del
ENST00000461221.5:c.*2922_*2963del ENSP00000418548.1:n.*2922_*2963del
ENST00000468300.5:c.788-1360_788-1319del ENSP00000417148.1:n.788-1360_788-1319del
ENST00000471181.6:c.3139_3180del ENSP00000418960.2:p.Val1047_Glu1060del
ENST00000478531.5:c.785-1360_785-1319del ENSP00000420412.1:n.785-1360_785-1319del
ENST00000484087.5:c.410-1360_410-1319del ENSP00000419481.1:n.410-1360_410-1319del
ENST00000487825.5:c.413-1360_413-1319del ENSP00000418212.1:n.413-1360_413-1319del
ENST00000491747.6:c.788-1360_788-1319del ENSP00000420705.2:n.788-1360_788-1319del
ENST00000493795.5:c.2998_3039del ENSP00000418775.1:p.Val1000_Glu1013del
ENST00000493919.5:c.647-1360_647-1319del ENSP00000418819.1:n.647-1360_647-1319del
ENST00000586385.5:c.5-28441_5-28400del ENSP00000465818.1:n.5-28441_5-28400del
ENST00000591534.5:c.-43-17871_-43-17830del ENSP00000467329.1:n.-43-17871_-43-17830del
ENST00000591849.5:c.-99+32879_-99+32920del ENSP00000465347.1:n.-99+32879_-99+32920del
NM_007294.3:c.3139_3180del , LRG_292t1:c.3139_3180del NP_009225.1:p.Val1047_Glu1060del
NM_007297.3:c.2998_3039del NP_009228.2:p.Val1000_Glu1013del
NM_007298.3:c.788-1360_788-1319del NP_009229.2:n.788-1360_788-1319del
NM_007299.3:c.788-1360_788-1319del NP_009230.2:n.788-1360_788-1319del
NM_007300.3:c.3139_3180del NP_009231.2:p.Val1047_Glu1060del
NR_027676.1:n.3275_3316del
NM_007294.4:c.3139_3180del MANE Select NP_009225.1:p.Val1047_Glu1060del
NM_007297.4:c.2998_3039del NP_009228.2:p.Val1000_Glu1013del
NM_007299.4:c.788-1360_788-1319del NP_009230.2:n.788-1360_788-1319del
NM_007300.4:c.3139_3180del NP_009231.2:p.Val1047_Glu1060del
NR_027676.2:n.3316_3357del