Canonical Allele Identifier: CA2697559962

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2692403
• ClinVar RCV Id: RCV003494595

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045093_43046211del , CM000679.2:g.43045093_43046211del	GRCh38
NC_000017.10:g.41197110_41198228del , CM000679.1:g.41197110_41198228del	GRCh37
NC_000017.9:g.38450636_38451754del	NCBI36
NG_005905.2:g.171818_172936del , LRG_292:g.171818_172936del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5465-364_*630del
ENST00000470026.6:c.5468-364_*630del
ENST00000473961.6:c.5342-364_*630del
ENST00000476777.6:c.5462-364_*630del
ENST00000477152.6:c.5390-364_*630del
ENST00000478531.6:c.2156-364_*630del
ENST00000489037.2:c.5390-364_*630del
ENST00000493919.6:c.2018-364_*630del
ENST00000494123.6:c.5468-364_*630del
ENST00000497488.2:c.4580-364_*630del
ENST00000618469.2:c.5468-364_*630del
ENST00000634433.2:c.5345-364_*630del
ENST00000644555.2:c.2018-364_*630del
ENST00000652672.2:c.5327-364_*630del
ENST00000700081.1:n.1351-364_2105del
ENST00000700082.1:n.832-364_1586del
ENST00000357654.9:c.5468-364_*630del
ENST00000471181.7:c.5531-364_*630del
ENST00000352993.7:c.2042-364_*630del
ENST00000357654.7:c.5468-364_*630del
ENST00000468300.5:c.2082-364_*736del
NM_007294.3:c.5468-364_*630del , LRG_292t1:c.5468-364_*630del
NM_007297.3:c.5327-364_*630del
NM_007298.3:c.2156-364_*630del
NM_007299.3:c.2082-364_*736del
NM_007300.3:c.5531-364_*630del
NR_027676.1:n.5604-364_6358del
NM_007294.4:c.5468-364_*630del
NM_007297.4:c.5327-364_*630del
NM_007299.4:c.2082-364_*736del
NM_007300.4:c.5531-364_*630del
NR_027676.2:n.5645-364_6399del