Canonical Allele Identifier: CA10602570
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 267604
ClinVar RCV Id: RCV000258186
dbSNP Id: rs886040918

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43047643del , CM000679.2:g.43047643del GRCh38
NC_000017.10:g.41199660del , CM000679.1:g.41199660del GRCh37
NC_000017.9:g.38453186del NCBI36
NG_005905.2:g.170342del , LRG_292:g.170342del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5464+1del
ENST00000470026.6:c.5467+1del
ENST00000473961.6:c.5341+1del
ENST00000476777.6:c.5461+1del
ENST00000477152.6:c.5389+1del
ENST00000478531.6:c.2155+1del
ENST00000489037.2:c.5389+1del
ENST00000493919.6:c.2017+1del
ENST00000494123.6:c.5467+1del
ENST00000497488.2:c.4579+1del
ENST00000618469.2:c.5467+1del
ENST00000634433.2:c.5344+1del
ENST00000644379.2:c.5533+1del
ENST00000644555.2:c.2017+1del
ENST00000652672.2:c.5326+1del
ENST00000484087.6:c.2029+1del
ENST00000700081.1:n.1350+1del
ENST00000700082.1:n.831+1del
ENST00000357654.9:c.5467+1del
ENST00000471181.7:c.5530+1del
ENST00000644379.1:c.1854+1del
ENST00000352993.7:c.2041+1del
ENST00000357654.7:c.5467+1del
ENST00000461221.5:c.*5250+1del
ENST00000468300.5:c.2081+1del
ENST00000471181.6:c.5530+1del
ENST00000491747.6:c.2155+1del
ENST00000493795.5:c.5326+1del
ENST00000586385.5:c.397+1del
ENST00000591534.5:c.940+1del
ENST00000591849.5:c.166+1del
NM_007294.3:c.5467+1del , LRG_292t1:c.5467+1del
NM_007297.3:c.5326+1del
NM_007298.3:c.2155+1del
NM_007299.3:c.2081+1del
NM_007300.3:c.5530+1del
NR_027676.1:n.5603+1del
NM_007294.4:c.5467+1del
NM_007297.4:c.5326+1del
NM_007299.4:c.2081+1del
NM_007300.4:c.5530+1del
NR_027676.2:n.5644+1del