Canonical Allele Identifier: CA2499224338

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1050520
• ClinVar RCV Id: RCV001358055
• dbSNP Id: rs2152476215

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045676_43045993del , CM000679.2:g.43045676_43045993del	GRCh38
NC_000017.10:g.41197693_41198010del , CM000679.1:g.41197693_41198010del	GRCh37
NC_000017.9:g.38451219_38451536del	NCBI36
NG_005905.2:g.171991_172308del , LRG_292:g.171991_172308del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5465-191_*2del
ENST00000470026.6:c.5468-191_*2del
ENST00000473961.6:c.5342-191_*2del
ENST00000476777.6:c.5462-191_*2del
ENST00000477152.6:c.5390-191_*2del
ENST00000478531.6:c.2156-191_*2del
ENST00000489037.2:c.5390-191_*2del
ENST00000493919.6:c.2018-191_*2del
ENST00000494123.6:c.5468-191_*2del
ENST00000497488.2:c.4580-191_*2del
ENST00000618469.2:c.5468-191_*2del
ENST00000634433.2:c.5345-191_*2del
ENST00000644379.2:c.5534-191_*2del
ENST00000644555.2:c.2018-191_*2del
ENST00000652672.2:c.5327-191_*2del
ENST00000484087.6:c.2030-191_*2del
ENST00000700081.1:n.1351-191_1477del
ENST00000700082.1:n.832-191_958del
ENST00000357654.9:c.5468-191_*2del
ENST00000471181.7:c.5531-191_*2del
ENST00000644379.1:c.1855-191_1981del
ENST00000352993.7:c.2042-191_*2del
ENST00000357654.7:c.5468-191_*2del
ENST00000468300.5:c.2082-191_*108del
ENST00000471181.6:c.5531-191_*2del
ENST00000493795.5:c.5327-191_*2del
ENST00000586385.5:c.398-191_*2del
ENST00000591534.5:c.941-191_*2del
ENST00000591849.5:c.167-191_*2del
NM_007294.3:c.5468-191_*2del , LRG_292t1:c.5468-191_*2del
NM_007297.3:c.5327-191_*2del
NM_007298.3:c.2156-191_*2del
NM_007299.3:c.2082-191_*108del
NM_007300.3:c.5531-191_*2del
NR_027676.1:n.5604-191_5730del
NM_007294.4:c.5468-191_*2del
NM_007297.4:c.5327-191_*2del
NM_007299.4:c.2082-191_*108del
NM_007300.4:c.5531-191_*2del
NR_027676.2:n.5645-191_5771del