Canonical Allele Identifier: CA2499224413
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1049868
ClinVar RCV Id: RCV001356510
dbSNP Id: rs2154056714

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43076486_43076615del , CM000679.2:g.43076486_43076615del GRCh38
NC_000017.10:g.41228503_41228632del , CM000679.1:g.41228503_41228632del GRCh37
NC_000017.9:g.38482029_38482158del NCBI36
NG_005905.2:g.141369_141498del , LRG_292:g.141369_141498del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4358-4_4481+2del
ENST00000470026.6:c.4358-1_4484+2del
ENST00000473961.6:c.4232-1_4358+2del
ENST00000476777.6:c.4352-1_4478+2del
ENST00000477152.6:c.4280-1_4406+2del
ENST00000478531.6:c.1046-1_1172+2del
ENST00000489037.2:c.4280-1_4406+2del
ENST00000493919.6:c.908-1_1034+2del
ENST00000494123.6:c.4358-1_4484+2del
ENST00000497488.2:c.3470-1_3596+2del
ENST00000618469.2:c.4358-1_4484+2del
ENST00000634433.2:c.4235-1_4361+2del
ENST00000644379.2:c.4424-1_4550+2del
ENST00000644555.2:c.908-1_1034+2del
ENST00000652672.2:c.4217-1_4343+2del
ENST00000484087.6:c.923-4_1046+2del
ENST00000700182.1:c.968-4_1091+2del
ENST00000357654.9:c.4358-1_4484+2del
ENST00000471181.7:c.4424-4_4547+2del
ENST00000644379.1:c.745-1_871+2del
ENST00000352993.7:c.932-1_1058+2del
ENST00000357654.7:c.4358-1_4484+2del
ENST00000461221.5:c.*4141-1_*4267+2del
ENST00000468300.5:c.1049-4_1172+2del
ENST00000471181.6:c.4424-4_4547+2del
ENST00000478531.5:c.1046-1_1172+2del
ENST00000484087.5:c.671-1_797+2del
ENST00000491747.6:c.1049-4_1172+2del
ENST00000493795.5:c.4217-1_4343+2del
ENST00000493919.5:c.908-1_1034+2del
ENST00000586385.5:c.5-12664_5-12535del ENSP00000465818.1:n.5-12664_5-12535del
ENST00000591534.5:c.-43-2094_-43-1965del ENSP00000467329.1:n.-43-2094_-43-1965del
ENST00000591849.5:c.-98-26425_-98-26296del ENSP00000465347.1:n.-98-26425_-98-26296de...
NM_007294.3:c.4358-1_4484+2del , LRG_292t1:c.4358-1_4484+2del
NM_007297.3:c.4217-1_4343+2del
NM_007298.3:c.1049-4_1172+2del
NM_007299.3:c.1049-4_1172+2del
NM_007300.3:c.4424-4_4547+2del
NR_027676.1:n.4494-1_4620+2del
NM_007294.4:c.4358-1_4484+2del
NM_007297.4:c.4217-1_4343+2del
NM_007299.4:c.1049-4_1172+2del
NM_007300.4:c.4424-4_4547+2del
NR_027676.2:n.4535-1_4661+2del