Canonical Allele Identifier: CA2582342183
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2585830
ClinVar RCV Id: RCV003339002

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43047704del , CM000679.2:g.43047704del GRCh38
NC_000017.10:g.41199721del , CM000679.1:g.41199721del GRCh37
NC_000017.9:g.38453247del NCBI36
NG_005905.2:g.170282del , LRG_292:g.170282del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5405del
ENST00000470026.6:c.5408del
ENST00000473961.6:c.5282del
ENST00000476777.6:c.5402del
ENST00000477152.6:c.5330del
ENST00000478531.6:c.2096del
ENST00000489037.2:c.5330del
ENST00000493919.6:c.1958del
ENST00000494123.6:c.5408del
ENST00000497488.2:c.4520del
ENST00000618469.2:c.5408del
ENST00000634433.2:c.5285del
ENST00000644379.2:c.5474del
ENST00000644555.2:c.1958del
ENST00000652672.2:c.5267del
ENST00000484087.6:c.1970del
ENST00000700081.1:n.1291del
ENST00000700082.1:n.772del
ENST00000357654.9:c.5408del
ENST00000471181.7:c.5471del
ENST00000644379.1:c.1795del
ENST00000352993.7:c.1982del
ENST00000357654.7:c.5408del
ENST00000461221.5:c.*5191del
ENST00000468300.5:c.2022del
ENST00000471181.6:c.5471del
ENST00000491747.6:c.2096del
ENST00000493795.5:c.5267del
ENST00000586385.5:c.338del
ENST00000591534.5:c.881del
ENST00000591849.5:c.107del
NM_007294.3:c.5408del , LRG_292t1:c.5408del
NM_007297.3:c.5267del
NM_007298.3:c.2096del
NM_007299.3:c.2022del
NM_007300.3:c.5471del
NR_027676.1:n.5544del
NM_007294.4:c.5408del
NM_007297.4:c.5267del
NM_007299.4:c.2022del
NM_007300.4:c.5471del
NR_027676.2:n.5585del