Canonical Allele Identifier: CA645373139
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 431269
ClinVar RCV Id: RCV000496910
dbSNP Id: rs1135401880

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43070927_43070928del , CM000679.2:g.43070927_43070928del GRCh38
NC_000017.10:g.41222944_41222945del , CM000679.1:g.41222944_41222945del GRCh37
NC_000017.9:g.38476470_38476471del NCBI36
NG_005905.2:g.147058_147059del , LRG_292:g.147058_147059del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.4983+2_4983+3del
ENST00000470026.6:c.4986+2_4986+3del
ENST00000473961.6:c.4860+2_4860+3del
ENST00000476777.6:c.4980+2_4980+3del
ENST00000477152.6:c.4908+2_4908+3del
ENST00000478531.6:c.1674+2_1674+3del
ENST00000489037.2:c.4908+2_4908+3del
ENST00000493919.6:c.1536+2_1536+3del
ENST00000494123.6:c.4986+2_4986+3del
ENST00000497488.2:c.4098+2_4098+3del
ENST00000618469.2:c.4986+2_4986+3del
ENST00000634433.2:c.4863+2_4863+3del
ENST00000644379.2:c.5052+2_5052+3del
ENST00000644555.2:c.1536+2_1536+3del
ENST00000652672.2:c.4845+2_4845+3del
ENST00000484087.6:c.1548+2_1548+3del
ENST00000700182.1:c.1595_1596del ENSP00000514849.1:p.Val532GlufsTer11
ENST00000357654.9:c.4986+2_4986+3del
ENST00000471181.7:c.5049+2_5049+3del
ENST00000644379.1:c.1373+2_1373+3del
ENST00000352993.7:c.1560+2_1560+3del
ENST00000357654.7:c.4986+2_4986+3del
ENST00000461221.5:c.*4769+2_*4769+3del
ENST00000468300.5:c.1674+2_1674+3del
ENST00000471181.6:c.5049+2_5049+3del
ENST00000472490.1:n.139+2_139+3del
ENST00000478531.5:c.1674+2_1674+3del
ENST00000484087.5:c.1299+2_1299+3del
ENST00000491747.6:c.1674+2_1674+3del
ENST00000493795.5:c.4845+2_4845+3del
ENST00000493919.5:c.1536+2_1536+3del
ENST00000586385.5:c.5-6975_5-6974del ENSP00000465818.1:n.5-6975_5-6974del
ENST00000591534.5:c.459+2_459+3del
ENST00000591849.5:c.-98-20736_-98-20735del ENSP00000465347.1:n.-98-20736_-98-20735del
NM_007294.3:c.4986+2_4986+3del , LRG_292t1:c.4986+2_4986+3del
NM_007297.3:c.4845+2_4845+3del
NM_007298.3:c.1674+2_1674+3del
NM_007299.3:c.1674+2_1674+3del
NM_007300.3:c.5049+2_5049+3del
NR_027676.1:n.5122+2_5122+3del
NM_007294.4:c.4986+2_4986+3del
NM_007297.4:c.4845+2_4845+3del
NM_007299.4:c.1674+2_1674+3del
NM_007300.4:c.5049+2_5049+3del
NR_027676.2:n.5163+2_5163+3del