Canonical Allele Identifier: CA002510
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 55043
dbSNP Id: rs80357646

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091629_43091630del , CM000679.2:g.43091629_43091630del GRCh38
NC_000017.10:g.41243646_41243647del , CM000679.1:g.41243646_41243647del GRCh37
NC_000017.9:g.38497172_38497173del NCBI36
NG_005905.2:g.126354_126355del , LRG_292:g.126354_126355del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.3965_3966del
ENST00000461574.2:c.3901_3902del ENSP00000417241.2:p.Ser1301Ter
ENST00000470026.6:c.3901_3902del ENSP00000419274.2:p.Ser1301Ter
ENST00000473961.6:c.3775_3776del ENSP00000420201.2:p.Ser1259Ter
ENST00000476777.6:c.3898_3899del ENSP00000417554.2:p.Ser1300Ter
ENST00000477152.6:c.3823_3824del ENSP00000419988.2:p.Ser1275Ter
ENST00000478531.6:c.785-598_785-597del ENSP00000420412.2:n.785-598_785-597del
ENST00000489037.2:c.3823_3824del ENSP00000420781.2:p.Ser1275Ter
ENST00000493919.6:c.647-598_647-597del ENSP00000418819.2:n.647-598_647-597del
ENST00000494123.6:c.3901_3902del ENSP00000419103.2:p.Ser1301Ter
ENST00000497488.2:c.3013_3014del ENSP00000418986.2:p.Ser1005Ter
ENST00000618469.2:c.3901_3902del ENSP00000478114.2:p.Ser1301Ter
ENST00000634433.2:c.3778_3779del ENSP00000489431.2:p.Ser1260Ter
ENST00000644379.2:c.3901_3902del ENSP00000496570.2:p.Ser1301Ter
ENST00000644555.2:c.647-598_647-597del ENSP00000494614.2:n.647-598_647-597del
ENST00000652672.2:c.3760_3761del ENSP00000498906.2:p.Ser1254Ter
ENST00000484087.6:c.665-598_665-597del ENSP00000419481.2:n.665-598_665-597del
ENST00000700182.1:c.707-598_707-597del ENSP00000514849.1:n.707-598_707-597del
ENST00000357654.9:c.3901_3902del MANE Select ENSP00000350283.3:p.Ser1301Ter
ENST00000471181.7:c.3901_3902del ENSP00000418960.2:p.Ser1301Ter
ENST00000644379.1:c.222_223del
ENST00000352993.7:c.671-598_671-597del ENSP00000312236.5:n.671-598_671-597del
ENST00000354071.7:c.3901_3902del ENSP00000326002.7:p.Ser1301Ter
ENST00000357654.7:c.3901_3902del ENSP00000350283.3:p.Ser1301Ter
ENST00000461221.5:c.*3684_*3685del ENSP00000418548.1:n.*3684_*3685del
ENST00000461574.1:c.195_196del
ENST00000468300.5:c.788-598_788-597del ENSP00000417148.1:n.788-598_788-597del
ENST00000471181.6:c.3901_3902del ENSP00000418960.2:p.Ser1301Ter
ENST00000478531.5:c.785-598_785-597del ENSP00000420412.1:n.785-598_785-597del
ENST00000484087.5:c.410-598_410-597del ENSP00000419481.1:n.410-598_410-597del
ENST00000487825.5:c.413-598_413-597del ENSP00000418212.1:n.413-598_413-597del
ENST00000491747.6:c.788-598_788-597del ENSP00000420705.2:n.788-598_788-597del
ENST00000493795.5:c.3760_3761del ENSP00000418775.1:p.Ser1254Ter
ENST00000493919.5:c.647-598_647-597del ENSP00000418819.1:n.647-598_647-597del
ENST00000586385.5:c.5-27679_5-27678del ENSP00000465818.1:n.5-27679_5-27678del
ENST00000591534.5:c.-43-17109_-43-17108del ENSP00000467329.1:n.-43-17109_-43-17108de...
ENST00000591849.5:c.-99+33641_-99+33642del ENSP00000465347.1:n.-99+33641_-99+33642de...
NM_007294.3:c.3901_3902del , LRG_292t1:c.3901_3902del NP_009225.1:p.Ser1301Ter
NM_007297.3:c.3760_3761del NP_009228.2:p.Ser1254Ter
NM_007298.3:c.788-598_788-597del NP_009229.2:n.788-598_788-597del
NM_007299.3:c.788-598_788-597del NP_009230.2:n.788-598_788-597del
NM_007300.3:c.3901_3902del NP_009231.2:p.Ser1301Ter
NR_027676.1:n.4037_4038del
NM_007294.4:c.3901_3902del MANE Select NP_009225.1:p.Ser1301Ter
NM_007297.4:c.3760_3761del NP_009228.2:p.Ser1254Ter
NM_007299.4:c.788-598_788-597del NP_009230.2:n.788-598_788-597del
NM_007300.4:c.3901_3902del NP_009231.2:p.Ser1301Ter
NR_027676.2:n.4078_4079del