Canonical Allele Identifier: CA10589784
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 266334
ClinVar RCV Id: RCV000256966
dbSNP Id: rs886040096

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092421_43092422insA , CM000679.2:g.43092421_43092422insA GRCh38
NC_000017.10:g.41244438_41244439insA , CM000679.1:g.41244438_41244439insA GRCh37
NC_000017.9:g.38497964_38497965insA NCBI36
NG_005905.2:g.125562_125563insT , LRG_292:g.125562_125563insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3173_3174insT
ENST00000461574.2:c.3109_3110insT ENSP00000417241.2:p.Lys1037IlefsTer9
ENST00000470026.6:c.3109_3110insT ENSP00000419274.2:p.Lys1037IlefsTer9
ENST00000473961.6:c.2983_2984insT ENSP00000420201.2:p.Lys995IlefsTer9
ENST00000476777.6:c.3106_3107insT ENSP00000417554.2:p.Lys1036IlefsTer9
ENST00000477152.6:c.3031_3032insT ENSP00000419988.2:p.Lys1011IlefsTer9
ENST00000478531.6:c.785-1390_785-1389insT ENSP00000420412.2:n.785-1390_785-1389insT
ENST00000489037.2:c.3031_3032insT ENSP00000420781.2:p.Lys1011IlefsTer9
ENST00000493919.6:c.647-1390_647-1389insT ENSP00000418819.2:n.647-1390_647-1389insT
ENST00000494123.6:c.3109_3110insT ENSP00000419103.2:p.Lys1037IlefsTer9
ENST00000497488.2:c.2221_2222insT ENSP00000418986.2:p.Lys741IlefsTer9
ENST00000618469.2:c.3109_3110insT ENSP00000478114.2:p.Lys1037IlefsTer9
ENST00000634433.2:c.2986_2987insT ENSP00000489431.2:p.Lys996IlefsTer9
ENST00000644379.2:c.3109_3110insT ENSP00000496570.2:p.Lys1037IlefsTer9
ENST00000644555.2:c.647-1390_647-1389insT ENSP00000494614.2:n.647-1390_647-1389insT
ENST00000652672.2:c.2968_2969insT ENSP00000498906.2:p.Lys990IlefsTer9
ENST00000484087.6:c.665-1390_665-1389insT ENSP00000419481.2:n.665-1390_665-1389insT
ENST00000700182.1:c.707-1390_707-1389insT ENSP00000514849.1:n.707-1390_707-1389insT
ENST00000357654.9:c.3109_3110insT MANE Select ENSP00000350283.3:p.Lys1037IlefsTer9
ENST00000471181.7:c.3109_3110insT ENSP00000418960.2:p.Lys1037IlefsTer9
ENST00000352993.7:c.671-1390_671-1389insT ENSP00000312236.5:n.671-1390_671-1389insT
ENST00000354071.7:c.3109_3110insT ENSP00000326002.7:p.Lys1037IlefsTer9
ENST00000357654.7:c.3109_3110insT ENSP00000350283.3:p.Lys1037IlefsTer9
ENST00000461221.5:c.*2892_*2893insT ENSP00000418548.1:n.*2892_*2893insT
ENST00000468300.5:c.788-1390_788-1389insT ENSP00000417148.1:n.788-1390_788-1389insT
ENST00000471181.6:c.3109_3110insT ENSP00000418960.2:p.Lys1037IlefsTer9
ENST00000478531.5:c.785-1390_785-1389insT ENSP00000420412.1:n.785-1390_785-1389insT
ENST00000484087.5:c.410-1390_410-1389insT ENSP00000419481.1:n.410-1390_410-1389insT
ENST00000487825.5:c.413-1390_413-1389insT ENSP00000418212.1:n.413-1390_413-1389insT
ENST00000491747.6:c.788-1390_788-1389insT ENSP00000420705.2:n.788-1390_788-1389insT
ENST00000493795.5:c.2968_2969insT ENSP00000418775.1:p.Lys990IlefsTer9
ENST00000493919.5:c.647-1390_647-1389insT ENSP00000418819.1:n.647-1390_647-1389insT
ENST00000586385.5:c.5-28471_5-28470insT ENSP00000465818.1:n.5-28471_5-28470insT
ENST00000591534.5:c.-43-17901_-43-17900insT ENSP00000467329.1:n.-43-17901_-43-17900insT
ENST00000591849.5:c.-99+32849_-99+32850insT ENSP00000465347.1:n.-99+32849_-99+32850insT
NM_007294.3:c.3109_3110insT , LRG_292t1:c.3109_3110insT NP_009225.1:p.Lys1037IlefsTer9
NM_007297.3:c.2968_2969insT NP_009228.2:p.Lys990IlefsTer9
NM_007298.3:c.788-1390_788-1389insT NP_009229.2:n.788-1390_788-1389insT
NM_007299.3:c.788-1390_788-1389insT NP_009230.2:n.788-1390_788-1389insT
NM_007300.3:c.3109_3110insT NP_009231.2:p.Lys1037IlefsTer9
NR_027676.1:n.3245_3246insT
NM_007294.4:c.3109_3110insT MANE Select NP_009225.1:p.Lys1037IlefsTer9
NM_007297.4:c.2968_2969insT NP_009228.2:p.Lys990IlefsTer9
NM_007299.4:c.788-1390_788-1389insT NP_009230.2:n.788-1390_788-1389insT
NM_007300.4:c.3109_3110insT NP_009231.2:p.Lys1037IlefsTer9
NR_027676.2:n.3286_3287insT