Canonical Allele Identifier: CA002799
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 188413
ClinVar RCV Id: RCV002478522

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43076492_43076618del , CM000679.2:g.43076492_43076618del GRCh38
NC_000017.10:g.41228509_41228635del , CM000679.1:g.41228509_41228635del GRCh37
NC_000017.9:g.38482035_38482161del NCBI36
NG_005905.2:g.141370_141496del , LRG_292:g.141370_141496del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4358-3_4481del
ENST00000470026.6:c.4358_4484del
ENST00000473961.6:c.4232_4358del
ENST00000476777.6:c.4352_4478del
ENST00000477152.6:c.4280_4406del
ENST00000478531.6:c.1046_1172del
ENST00000489037.2:c.4280_4406del
ENST00000493919.6:c.908_1034del
ENST00000494123.6:c.4358_4484del
ENST00000497488.2:c.3470_3596del
ENST00000618469.2:c.4358_4484del
ENST00000634433.2:c.4235_4361del
ENST00000644379.2:c.4424_4550del
ENST00000644555.2:c.908_1034del
ENST00000652672.2:c.4217_4343del
ENST00000484087.6:c.923-3_1046del
ENST00000700182.1:c.968-3_1091del
ENST00000357654.9:c.4358_4484del
ENST00000471181.7:c.4424-3_4547del
ENST00000644379.1:c.745_871del
ENST00000352993.7:c.932_1058del
ENST00000357654.7:c.4358_4484del
ENST00000461221.5:c.*4141_*4267del
ENST00000468300.5:c.1049-3_1172del
ENST00000471181.6:c.4424-3_4547del
ENST00000478531.5:c.1046_1172del
ENST00000484087.5:c.671_797del
ENST00000487825.5:c.674_800del
ENST00000491747.6:c.1049-3_1172del
ENST00000493795.5:c.4217_4343del
ENST00000493919.5:c.908_1034del
ENST00000586385.5:c.5-12663_5-12537del ENSP00000465818.1:n.5-12663_5-12537del
ENST00000591534.5:c.-43-2093_-43-1967del ENSP00000467329.1:n.-43-2093_-43-1967del
ENST00000591849.5:c.-98-26424_-98-26298del ENSP00000465347.1:n.-98-26424_-98-26298de...
ENST00000621897.1:n.252-3_375del
NM_007294.3:c.4358_4484del , LRG_292t1:c.4358_4484del
NM_007297.3:c.4217_4343del
NM_007298.3:c.1049-3_1172del
NM_007299.3:c.1049-3_1172del
NM_007300.3:c.4424-3_4547del
NR_027676.1:n.4494_4620del
NM_007294.4:c.4358_4484del
NM_007297.4:c.4217_4343del
NM_007299.4:c.1049-3_1172del
NM_007300.4:c.4424-3_4547del
NR_027676.2:n.4535_4661del