Canonical Allele Identifier: CA2499224356

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1050509
• ClinVar RCV Id: RCV001358024
• dbSNP Id: rs2153052213

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051061_43051118del , CM000679.2:g.43051061_43051118del	GRCh38
NC_000017.10:g.41203078_41203135del , CM000679.1:g.41203078_41203135del	GRCh37
NC_000017.9:g.38456604_38456661del	NCBI36
NG_005905.2:g.166866_166923del , LRG_292:g.166866_166923del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5275-1_5329+2del
ENST00000470026.6:c.5278-1_5332+2del
ENST00000473961.6:c.5152-1_5206+2del
ENST00000476777.6:c.5272-1_5326+2del
ENST00000477152.6:c.5200-1_5254+2del
ENST00000478531.6:c.1966-1_2020+2del
ENST00000489037.2:c.5200-1_5254+2del
ENST00000493919.6:c.1828-1_1882+2del
ENST00000494123.6:c.5278-1_5332+2del
ENST00000497488.2:c.4390-1_4444+2del
ENST00000618469.2:c.5278-1_5332+2del
ENST00000634433.2:c.5155-1_5209+2del
ENST00000644379.2:c.5344-1_5398+2del
ENST00000644555.2:c.1828-1_1882+2del
ENST00000652672.2:c.5137-1_5191+2del
ENST00000484087.6:c.1840-1_1894+2del
ENST00000357654.9:c.5278-1_5332+2del
ENST00000471181.7:c.5341-1_5395+2del
ENST00000644379.1:c.1665-1_1719+2del
ENST00000352993.7:c.1852-1_1906+2del
ENST00000357654.7:c.5278-1_5332+2del
ENST00000461221.5:c.*5061-1_*5115+2del
ENST00000468300.5:c.1966-1_2020+2del
ENST00000471181.6:c.5341-1_5395+2del
ENST00000491747.6:c.1966-1_2020+2del
ENST00000493795.5:c.5137-1_5191+2del
ENST00000586385.5:c.208-1_262+2del
ENST00000591534.5:c.751-1_805+2del
ENST00000591849.5:c.-98-928_-98-871del	ENSP00000465347.1:n.-98-928_-98-871del
NM_007294.3:c.5278-1_5332+2del , LRG_292t1:c.5278-1_5332+2del
NM_007297.3:c.5137-1_5191+2del
NM_007298.3:c.1966-1_2020+2del
NM_007299.3:c.1966-1_2020+2del
NM_007300.3:c.5341-1_5395+2del
NR_027676.1:n.5414-1_5468+2del
NM_007294.4:c.5278-1_5332+2del
NM_007297.4:c.5137-1_5191+2del
NM_007299.4:c.1966-1_2020+2del
NM_007300.4:c.5341-1_5395+2del
NR_027676.2:n.5455-1_5509+2del