Canonical Allele Identifier: CA2580093785

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1713201
• ClinVar RCV Id: RCV003155996

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43044924_43051621del , CM000679.2:g.43044924_43051621del	GRCh38
NC_000017.10:g.41196941_41203638del , CM000679.1:g.41196941_41203638del	GRCh37
NC_000017.9:g.38450467_38457164del	NCBI36
NG_005905.2:g.166365_173062del , LRG_292:g.166365_173062del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5275-502_*756del
ENST00000470026.6:c.5278-502_*756del
ENST00000473961.6:c.5152-502_*756del
ENST00000476777.6:c.5272-502_*756del
ENST00000477152.6:c.5200-502_*756del
ENST00000478531.6:c.1966-502_*756del
ENST00000489037.2:c.5200-502_*756del
ENST00000493919.6:c.1828-502_*756del
ENST00000494123.6:c.5278-502_*756del
ENST00000497488.2:c.4390-502_*756del
ENST00000618469.2:c.5278-502_*756del
ENST00000634433.2:c.5155-502_*756del
ENST00000644555.2:c.1828-502_*756del
ENST00000652672.2:c.5137-502_*756del
ENST00000357654.9:c.5278-502_*756del
ENST00000471181.7:c.5341-502_*756del
ENST00000352993.7:c.1852-502_*756del
ENST00000357654.7:c.5278-502_*756del
ENST00000468300.5:c.1966-502_*862del
NM_007294.3:c.5278-502_*756del , LRG_292t1:c.5278-502_*756del
NM_007297.3:c.5137-502_*756del
NM_007298.3:c.1966-502_*756del
NM_007299.3:c.1966-502_*862del
NM_007300.3:c.5341-502_*756del
NR_027676.1:n.5414-502_6484del
NM_007294.4:c.5278-502_*756del
NM_007297.4:c.5137-502_*756del
NM_007299.4:c.1966-502_*862del
NM_007300.4:c.5341-502_*756del
NR_027676.2:n.5455-502_6525del