Canonical Allele Identifier: CA658761286
Gene: BRCA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092305_43092311delinsAA , CM000679.2:g.43092305_43092311delinsAA GRCh38
NC_000017.10:g.41244322_41244328delinsAA , CM000679.1:g.41244322_41244328delinsAA GRCh37
NC_000017.9:g.38497848_38497854delinsAA NCBI36
NG_005905.2:g.125673_125679delinsTT , LRG_292:g.125673_125679delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3284_3290delinsTT
ENST00000461574.2:c.3220_3226delinsTT ENSP00000417241.2:p.Arg1074LeufsTer10
ENST00000470026.6:c.3220_3226delinsTT ENSP00000419274.2:p.Arg1074LeufsTer10
ENST00000473961.6:c.3094_3100delinsTT ENSP00000420201.2:p.Arg1032LeufsTer10
ENST00000476777.6:c.3217_3223delinsTT ENSP00000417554.2:p.Arg1073LeufsTer10
ENST00000477152.6:c.3142_3148delinsTT ENSP00000419988.2:p.Arg1048LeufsTer10
ENST00000478531.6:c.785-1279_785-1273delinsTT ENSP00000420412.2:n.785-1279_785-1273delinsTT
ENST00000489037.2:c.3142_3148delinsTT ENSP00000420781.2:p.Arg1048LeufsTer10
ENST00000493919.6:c.647-1279_647-1273delinsTT ENSP00000418819.2:n.647-1279_647-1273delinsTT
ENST00000494123.6:c.3220_3226delinsTT ENSP00000419103.2:p.Arg1074LeufsTer10
ENST00000497488.2:c.2332_2338delinsTT ENSP00000418986.2:p.Arg778LeufsTer10
ENST00000618469.2:c.3220_3226delinsTT ENSP00000478114.2:p.Arg1074LeufsTer10
ENST00000634433.2:c.3097_3103delinsTT ENSP00000489431.2:p.Arg1033LeufsTer10
ENST00000644379.2:c.3220_3226delinsTT ENSP00000496570.2:p.Arg1074LeufsTer10
ENST00000644555.2:c.647-1279_647-1273delinsTT ENSP00000494614.2:n.647-1279_647-1273delinsTT
ENST00000652672.2:c.3079_3085delinsTT ENSP00000498906.2:p.Arg1027LeufsTer10
ENST00000484087.6:c.665-1279_665-1273delinsTT ENSP00000419481.2:n.665-1279_665-1273delinsTT
ENST00000700182.1:c.707-1279_707-1273delinsTT ENSP00000514849.1:n.707-1279_707-1273delinsTT
ENST00000357654.9:c.3220_3226delinsTT MANE Select ENSP00000350283.3:p.Arg1074LeufsTer10
ENST00000471181.7:c.3220_3226delinsTT ENSP00000418960.2:p.Arg1074LeufsTer10
ENST00000352993.7:c.671-1279_671-1273delinsTT ENSP00000312236.5:n.671-1279_671-1273delinsTT
ENST00000354071.7:c.3220_3226delinsTT ENSP00000326002.7:p.Arg1074LeufsTer10
ENST00000357654.7:c.3220_3226delinsTT ENSP00000350283.3:p.Arg1074LeufsTer10
ENST00000461221.5:c.*3003_*3009delinsTT ENSP00000418548.1:n.*3003_*3009delinsTT
ENST00000468300.5:c.788-1279_788-1273delinsTT ENSP00000417148.1:n.788-1279_788-1273delinsTT
ENST00000471181.6:c.3220_3226delinsTT ENSP00000418960.2:p.Arg1074LeufsTer10
ENST00000478531.5:c.785-1279_785-1273delinsTT ENSP00000420412.1:n.785-1279_785-1273delinsTT
ENST00000484087.5:c.410-1279_410-1273delinsTT ENSP00000419481.1:n.410-1279_410-1273delinsTT
ENST00000487825.5:c.413-1279_413-1273delinsTT ENSP00000418212.1:n.413-1279_413-1273delinsTT
ENST00000491747.6:c.788-1279_788-1273delinsTT ENSP00000420705.2:n.788-1279_788-1273delinsTT
ENST00000493795.5:c.3079_3085delinsTT ENSP00000418775.1:p.Arg1027LeufsTer10
ENST00000493919.5:c.647-1279_647-1273delinsTT ENSP00000418819.1:n.647-1279_647-1273delinsTT
ENST00000586385.5:c.5-28360_5-28354delinsTT ENSP00000465818.1:n.5-28360_5-28354delinsTT
ENST00000591534.5:c.-43-17790_-43-17784delinsTT ENSP00000467329.1:n.-43-17790_-43-17784delinsTT
ENST00000591849.5:c.-99+32960_-99+32966delinsTT ENSP00000465347.1:n.-99+32960_-99+32966delinsTT
NM_007294.3:c.3220_3226delinsTT , LRG_292t1:c.3220_3226delinsTT NP_009225.1:p.Arg1074LeufsTer10
NM_007297.3:c.3079_3085delinsTT NP_009228.2:p.Arg1027LeufsTer10
NM_007298.3:c.788-1279_788-1273delinsTT NP_009229.2:n.788-1279_788-1273delinsTT
NM_007299.3:c.788-1279_788-1273delinsTT NP_009230.2:n.788-1279_788-1273delinsTT
NM_007300.3:c.3220_3226delinsTT NP_009231.2:p.Arg1074LeufsTer10
NR_027676.1:n.3356_3362delinsTT
NM_007294.4:c.3220_3226delinsTT MANE Select NP_009225.1:p.Arg1074LeufsTer10
NM_007297.4:c.3079_3085delinsTT NP_009228.2:p.Arg1027LeufsTer10
NM_007299.4:c.788-1279_788-1273delinsTT NP_009230.2:n.788-1279_788-1273delinsTT
NM_007300.4:c.3220_3226delinsTT NP_009231.2:p.Arg1074LeufsTer10
NR_027676.2:n.3397_3403delinsTT