Canonical Allele Identifier: CA16609626
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373853
ClinVar RCV Id: RCV000413926

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43075943_43080892del , CM000679.2:g.43075943_43080892del GRCh38
NC_000017.10:g.41227960_41232909del , CM000679.1:g.41227960_41232909del GRCh37
NC_000017.9:g.38481486_38486435del NCBI36
NG_005905.2:g.137094_142043del , LRG_292:g.137094_142043del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4357+1514_4481+547del
ENST00000470026.6:c.4357+1514_4484+547del
ENST00000473961.6:c.4231+1514_4358+547del
ENST00000476777.6:c.4351+1514_4478+547del
ENST00000477152.6:c.4279+1514_4406+547del
ENST00000478531.6:c.1045+1514_1172+547del
ENST00000489037.2:c.4279+1514_4406+547del
ENST00000493919.6:c.907+1514_1034+547del
ENST00000494123.6:c.4357+1514_4484+547del
ENST00000497488.2:c.3469+1514_3596+547del
ENST00000618469.2:c.4357+1514_4484+547del
ENST00000634433.2:c.4234+1514_4361+547del
ENST00000644379.2:c.4358-1491_4550+547del
ENST00000644555.2:c.907+1514_1034+547del
ENST00000652672.2:c.4216+1514_4343+547del
ENST00000484087.6:c.922+1514_1046+547del
ENST00000700182.1:c.967+1514_1091+547del
ENST00000357654.9:c.4357+1514_4484+547del
ENST00000471181.7:c.4358-1491_4547+547del
ENST00000644379.1:c.679-1491_871+547del
ENST00000352993.7:c.931+1514_1058+547del
ENST00000357654.7:c.4357+1514_4484+547del
ENST00000461221.5:c.*4140+1514_*4267+547del
ENST00000468300.5:c.1048+1514_1172+547del
ENST00000471181.6:c.4358-1491_4547+547del
ENST00000478531.5:c.1045+1514_1172+547del
ENST00000484087.5:c.670+1514_797+547del
ENST00000491747.6:c.1048+1514_1172+547del
ENST00000493795.5:c.4216+1514_4343+547del
ENST00000493919.5:c.907+1514_1034+547del
ENST00000586385.5:c.5-16939_5-11990del ENSP00000465818.1:n.5-16939_5-11990del
ENST00000591534.5:c.-43-6369_-43-1420del ENSP00000467329.1:n.-43-6369_-43-1420del
ENST00000591849.5:c.-98-30700_-98-25751del ENSP00000465347.1:n.-98-30700_-98-25751de...
NM_007294.3:c.4357+1514_4484+547del , LRG_292t1:c.4357+1514_4484+547del
NM_007297.3:c.4216+1514_4343+547del
NM_007298.3:c.1048+1514_1172+547del
NM_007299.3:c.1048+1514_1172+547del
NM_007300.3:c.4358-1491_4547+547del
NR_027676.1:n.4493+1514_4620+547del
NM_007294.4:c.4357+1514_4484+547del
NM_007297.4:c.4216+1514_4343+547del
NM_007299.4:c.1048+1514_1172+547del
NM_007300.4:c.4358-1491_4547+547del
NR_027676.2:n.4534+1514_4661+547del