Canonical Allele Identifier: CA2580093933
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2003003
ClinVar RCV Id: RCV002825015

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43047629_43047683dup , CM000679.2:g.43047629_43047683dup GRCh38
NC_000017.10:g.41199646_41199700dup , CM000679.1:g.41199646_41199700dup GRCh37
NC_000017.9:g.38453172_38453226dup NCBI36
NG_005905.2:g.170304_170358dup , LRG_292:g.170304_170358dup

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5427_5464+17dup
ENST00000470026.6:c.5430_5467+17dup
ENST00000473961.6:c.5304_5341+17dup
ENST00000476777.6:c.5424_5461+17dup
ENST00000477152.6:c.5352_5389+17dup
ENST00000478531.6:c.2118_2155+17dup
ENST00000489037.2:c.5352_5389+17dup
ENST00000493919.6:c.1980_2017+17dup
ENST00000494123.6:c.5430_5467+17dup
ENST00000497488.2:c.4542_4579+17dup
ENST00000618469.2:c.5430_5467+17dup
ENST00000634433.2:c.5307_5344+17dup
ENST00000644379.2:c.5496_5533+17dup
ENST00000644555.2:c.1980_2017+17dup
ENST00000652672.2:c.5289_5326+17dup
ENST00000484087.6:c.1992_2029+17dup
ENST00000700081.1:n.1313_1350+17dup
ENST00000700082.1:n.794_831+17dup
ENST00000357654.9:c.5430_5467+17dup
ENST00000471181.7:c.5493_5530+17dup
ENST00000644379.1:c.1817_1854+17dup
ENST00000352993.7:c.2004_2041+17dup
ENST00000357654.7:c.5430_5467+17dup
ENST00000461221.5:c.*5213_*5250+17dup
ENST00000468300.5:c.2044_2081+17dup
ENST00000471181.6:c.5493_5530+17dup
ENST00000491747.6:c.2118_2155+17dup
ENST00000493795.5:c.5289_5326+17dup
ENST00000586385.5:c.360_397+17dup
ENST00000591534.5:c.903_940+17dup
ENST00000591849.5:c.129_166+17dup
NM_007294.3:c.5430_5467+17dup , LRG_292t1:c.5430_5467+17dup
NM_007297.3:c.5289_5326+17dup
NM_007298.3:c.2118_2155+17dup
NM_007299.3:c.2044_2081+17dup
NM_007300.3:c.5493_5530+17dup
NR_027676.1:n.5566_5603+17dup
NM_007294.4:c.5430_5467+17dup
NM_007297.4:c.5289_5326+17dup
NM_007299.4:c.2044_2081+17dup
NM_007300.4:c.5493_5530+17dup
NR_027676.2:n.5607_5644+17dup