Canonical Allele Identifier: CA658655490

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1809530
• ClinVar RCV Id: RCV002481109

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063335_43063953del , CM000679.2:g.43063335_43063953del	GRCh38
NC_000017.10:g.41215352_41215970del , CM000679.1:g.41215352_41215970del	GRCh37
NC_000017.9:g.38468878_38469496del	NCBI36
NG_005905.2:g.154033_154651del , LRG_292:g.154033_154651del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5072_5190del
ENST00000470026.6:c.5075_5193del
ENST00000473961.6:c.4949_5067del
ENST00000476777.6:c.5069_5187del
ENST00000477152.6:c.4997_5115del
ENST00000478531.6:c.1763_1881del
ENST00000489037.2:c.4997_5115del
ENST00000493919.6:c.1625_1743del
ENST00000494123.6:c.5075_5193del
ENST00000497488.2:c.4187_4305del
ENST00000618469.2:c.5075_5193del
ENST00000634433.2:c.4952_5070del
ENST00000644379.2:c.5141_5259del
ENST00000644555.2:c.1625_1743del
ENST00000652672.2:c.4934_5052del
ENST00000484087.6:c.1637_1755del
ENST00000357654.9:c.5075_5193del
ENST00000471181.7:c.5138_5256del
ENST00000644379.1:c.1462_1580del
ENST00000352993.7:c.1649_1767del
ENST00000357654.7:c.5075_5193del
ENST00000461221.5:c.*4858_*4976del
ENST00000468300.5:c.1763_1881del
ENST00000471181.6:c.5138_5256del
ENST00000491747.6:c.1763_1881del
ENST00000493795.5:c.4934_5052del
ENST00000586385.5:c.5_123del
ENST00000591534.5:c.548_666del
ENST00000591849.5:c.-98-13761_-98-13143del	ENSP00000465347.1:n.-98-13761_-98-13143de...
NM_007294.3:c.5075_5193del , LRG_292t1:c.5075_5193del
NM_007297.3:c.4934_5052del
NM_007298.3:c.1763_1881del
NM_007299.3:c.1763_1881del
NM_007300.3:c.5138_5256del
NR_027676.1:n.5211_5329del
NM_007294.4:c.5075_5193del
NM_007297.4:c.4934_5052del
NM_007299.4:c.1763_1881del
NM_007300.4:c.5138_5256del
NR_027676.2:n.5252_5370del