Canonical Allele Identifier: CA10589704
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 266427
dbSNP Id: rs886040185

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091532_43091538del , CM000679.2:g.43091532_43091538del GRCh38
NC_000017.10:g.41243549_41243555del , CM000679.1:g.41243549_41243555del GRCh37
NC_000017.9:g.38497075_38497081del NCBI36
NG_005905.2:g.126448_126454del , LRG_292:g.126448_126454del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4059_4065del
ENST00000461574.2:c.3995_4001del ENSP00000417241.2:p.Gly1332ValfsTer2
ENST00000470026.6:c.3995_4001del ENSP00000419274.2:p.Gly1332ValfsTer2
ENST00000473961.6:c.3869_3875del ENSP00000420201.2:p.Gly1290ValfsTer2
ENST00000476777.6:c.3992_3998del ENSP00000417554.2:p.Gly1331ValfsTer2
ENST00000477152.6:c.3917_3923del ENSP00000419988.2:p.Gly1306ValfsTer2
ENST00000478531.6:c.785-504_785-498del ENSP00000420412.2:n.785-504_785-498del
ENST00000489037.2:c.3917_3923del ENSP00000420781.2:p.Gly1306ValfsTer2
ENST00000493919.6:c.647-504_647-498del ENSP00000418819.2:n.647-504_647-498del
ENST00000494123.6:c.3995_4001del ENSP00000419103.2:p.Gly1332ValfsTer2
ENST00000497488.2:c.3107_3113del ENSP00000418986.2:p.Gly1036ValfsTer2
ENST00000618469.2:c.3995_4001del ENSP00000478114.2:p.Gly1332ValfsTer2
ENST00000634433.2:c.3872_3878del ENSP00000489431.2:p.Gly1291ValfsTer2
ENST00000644379.2:c.3995_4001del ENSP00000496570.2:p.Gly1332ValfsTer2
ENST00000644555.2:c.647-504_647-498del ENSP00000494614.2:n.647-504_647-498del
ENST00000652672.2:c.3854_3860del ENSP00000498906.2:p.Gly1285ValfsTer2
ENST00000484087.6:c.665-504_665-498del ENSP00000419481.2:n.665-504_665-498del
ENST00000700182.1:c.707-504_707-498del ENSP00000514849.1:n.707-504_707-498del
ENST00000357654.9:c.3995_4001del MANE Select ENSP00000350283.3:p.Gly1332ValfsTer2
ENST00000471181.7:c.3995_4001del ENSP00000418960.2:p.Gly1332ValfsTer2
ENST00000644379.1:c.316_322del
ENST00000352993.7:c.671-504_671-498del ENSP00000312236.5:n.671-504_671-498del
ENST00000354071.7:c.3995_4001del ENSP00000326002.7:p.Gly1332ValfsTer2
ENST00000357654.7:c.3995_4001del ENSP00000350283.3:p.Gly1332ValfsTer2
ENST00000461221.5:c.*3778_*3784del ENSP00000418548.1:n.*3778_*3784del
ENST00000461574.1:c.289_295del
ENST00000468300.5:c.788-504_788-498del ENSP00000417148.1:n.788-504_788-498del
ENST00000471181.6:c.3995_4001del ENSP00000418960.2:p.Gly1332ValfsTer2
ENST00000478531.5:c.785-504_785-498del ENSP00000420412.1:n.785-504_785-498del
ENST00000484087.5:c.410-504_410-498del ENSP00000419481.1:n.410-504_410-498del
ENST00000487825.5:c.413-504_413-498del ENSP00000418212.1:n.413-504_413-498del
ENST00000491747.6:c.788-504_788-498del ENSP00000420705.2:n.788-504_788-498del
ENST00000493795.5:c.3854_3860del ENSP00000418775.1:p.Gly1285ValfsTer2
ENST00000493919.5:c.647-504_647-498del ENSP00000418819.1:n.647-504_647-498del
ENST00000586385.5:c.5-27585_5-27579del ENSP00000465818.1:n.5-27585_5-27579del
ENST00000591534.5:c.-43-17015_-43-17009del ENSP00000467329.1:n.-43-17015_-43-17009del
ENST00000591849.5:c.-99+33735_-99+33741del ENSP00000465347.1:n.-99+33735_-99+33741del
NM_007294.3:c.3995_4001del , LRG_292t1:c.3995_4001del NP_009225.1:p.Gly1332ValfsTer2
NM_007297.3:c.3854_3860del NP_009228.2:p.Gly1285ValfsTer2
NM_007298.3:c.788-504_788-498del NP_009229.2:n.788-504_788-498del
NM_007299.3:c.788-504_788-498del NP_009230.2:n.788-504_788-498del
NM_007300.3:c.3995_4001del NP_009231.2:p.Gly1332ValfsTer2
NR_027676.1:n.4131_4137del
NM_007294.4:c.3995_4001del MANE Select NP_009225.1:p.Gly1332ValfsTer2
NM_007297.4:c.3854_3860del NP_009228.2:p.Gly1285ValfsTer2
NM_007299.4:c.788-504_788-498del NP_009230.2:n.788-504_788-498del
NM_007300.4:c.3995_4001del NP_009231.2:p.Gly1332ValfsTer2
NR_027676.2:n.4172_4178del