Canonical Allele Identifier: CA294543
Gene: APOE HGNC NCBI

Linked Data

ClinVar Variation Id: 143248
ClinVar RCV Id: RCV000132772
dbSNP Id: rs527236160

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44908587del , CM000681.2:g.44908587del GRCh38
NC_000019.9:g.45411844del , CM000681.1:g.45411844del GRCh37
NC_000019.8:g.50103684del NCBI36
NG_007084.2:g.7806del

Transcript Alleles

HGVS Amino-acid change
ENST00000252486.8:c.291del ENSP00000252486.3:p.Glu98AsnfsTer3
ENST00000425718.1:c.291del ENSP00000410423.1:p.Glu98AsnfsTer3
ENST00000434152.5:c.369del ENSP00000413653.2:p.Glu124AsnfsTer3
ENST00000446996.5:c.291del ENSP00000413135.1:p.Glu98AsnfsTer3
NM_000041.3:c.291del NP_000032.1:p.Glu98AsnfsTer3
NM_001302688.1:c.369del NP_001289617.1:p.Glu124AsnfsTer3
NM_001302689.1:c.291del NP_001289618.1:p.Glu98AsnfsTer3
NM_001302690.1:c.291del NP_001289619.1:p.Glu98AsnfsTer3
NM_001302691.1:c.291del NP_001289620.1:p.Glu98AsnfsTer3
NM_000041.4:c.291del MANE Select NP_000032.1:p.Glu98AsnfsTer3
NM_001302688.2:c.369del NP_001289617.1:p.Glu124AsnfsTer3
NM_001302689.2:c.291del NP_001289618.1:p.Glu98AsnfsTer3
NM_001302691.2:c.291del NP_001289620.1:p.Glu98AsnfsTer3
NM_001302690.2:c.291del NP_001289619.1:p.Glu98AsnfsTer3