Canonical Allele Identifier: CA16616884
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 417826
ClinVar RCV Id: RCV000477804
dbSNP Id: rs1060505047

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091697del , CM000679.2:g.43091697del GRCh38
NC_000017.10:g.41243714del , CM000679.1:g.41243714del GRCh37
NC_000017.9:g.38497240del NCBI36
NG_005905.2:g.126288del , LRG_292:g.126288del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.3899del
ENST00000461574.2:c.3835del ENSP00000417241.2:p.Ala1279HisfsTer28
ENST00000470026.6:c.3835del ENSP00000419274.2:p.Ala1279HisfsTer28
ENST00000473961.6:c.3709del ENSP00000420201.2:p.Ala1237HisfsTer28
ENST00000476777.6:c.3832del ENSP00000417554.2:p.Ala1278HisfsTer28
ENST00000477152.6:c.3757del ENSP00000419988.2:p.Ala1253HisfsTer28
ENST00000478531.6:c.785-664del ENSP00000420412.2:n.785-664del
ENST00000489037.2:c.3757del ENSP00000420781.2:p.Ala1253HisfsTer28
ENST00000493919.6:c.647-664del ENSP00000418819.2:n.647-664del
ENST00000494123.6:c.3835del ENSP00000419103.2:p.Ala1279HisfsTer28
ENST00000497488.2:c.2947del ENSP00000418986.2:p.Ala983HisfsTer28
ENST00000618469.2:c.3835del ENSP00000478114.2:p.Ala1279HisfsTer28
ENST00000634433.2:c.3712del ENSP00000489431.2:p.Ala1238HisfsTer28
ENST00000644379.2:c.3835del ENSP00000496570.2:p.Ala1279HisfsTer28
ENST00000644555.2:c.647-664del ENSP00000494614.2:n.647-664del
ENST00000652672.2:c.3694del ENSP00000498906.2:p.Ala1232HisfsTer28
ENST00000484087.6:c.665-664del ENSP00000419481.2:n.665-664del
ENST00000700182.1:c.707-664del ENSP00000514849.1:n.707-664del
ENST00000357654.9:c.3835del MANE Select ENSP00000350283.3:p.Ala1279HisfsTer28
ENST00000471181.7:c.3835del ENSP00000418960.2:p.Ala1279HisfsTer28
ENST00000644379.1:c.156del
ENST00000352993.7:c.671-664del ENSP00000312236.5:n.671-664del
ENST00000354071.7:c.3835del ENSP00000326002.7:p.Ala1279HisfsTer28
ENST00000357654.7:c.3835del ENSP00000350283.3:p.Ala1279HisfsTer28
ENST00000461221.5:c.*3618del ENSP00000418548.1:n.*3618del
ENST00000461574.1:c.129del
ENST00000468300.5:c.788-664del ENSP00000417148.1:n.788-664del
ENST00000471181.6:c.3835del ENSP00000418960.2:p.Ala1279HisfsTer28
ENST00000478531.5:c.785-664del ENSP00000420412.1:n.785-664del
ENST00000484087.5:c.410-664del ENSP00000419481.1:n.410-664del
ENST00000487825.5:c.413-664del ENSP00000418212.1:n.413-664del
ENST00000491747.6:c.788-664del ENSP00000420705.2:n.788-664del
ENST00000493795.5:c.3694del ENSP00000418775.1:p.Ala1232HisfsTer28
ENST00000493919.5:c.647-664del ENSP00000418819.1:n.647-664del
ENST00000586385.5:c.5-27745del ENSP00000465818.1:n.5-27745del
ENST00000591534.5:c.-43-17175del ENSP00000467329.1:n.-43-17175del
ENST00000591849.5:c.-99+33575del ENSP00000465347.1:n.-99+33575del
NM_007294.3:c.3835del , LRG_292t1:c.3835del NP_009225.1:p.Ala1279HisfsTer28
NM_007297.3:c.3694del NP_009228.2:p.Ala1232HisfsTer28
NM_007298.3:c.788-664del NP_009229.2:n.788-664del
NM_007299.3:c.788-664del NP_009230.2:n.788-664del
NM_007300.3:c.3835del NP_009231.2:p.Ala1279HisfsTer28
NR_027676.1:n.3971del
NM_007294.4:c.3835del MANE Select NP_009225.1:p.Ala1279HisfsTer28
NM_007297.4:c.3694del NP_009228.2:p.Ala1232HisfsTer28
NM_007299.4:c.788-664del NP_009230.2:n.788-664del
NM_007300.4:c.3835del NP_009231.2:p.Ala1279HisfsTer28
NR_027676.2:n.4012del