Canonical Allele Identifier: CA2735932573
Gene: APOE HGNC NCBI

Linked Data

dbSNP Id: rs2122132982

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44907915del , CM000681.2:g.44907915del GRCh38
NC_000019.9:g.45411172del , CM000681.1:g.45411172del GRCh37
NC_000019.8:g.50103012del NCBI36
NG_007084.2:g.7134del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252486.9:c.199del MANE Select ENSP00000252486.3:p.Glu67ArgfsTer12
ENST00000252486.8:c.199del ENSP00000252486.3:p.Glu67ArgfsTer12
ENST00000425718.1:c.199del ENSP00000410423.1:p.Glu67ArgfsTer12
ENST00000434152.5:c.277del ENSP00000413653.2:p.Glu93ArgfsTer12
ENST00000446996.5:c.199del ENSP00000413135.1:p.Glu67ArgfsTer12
NM_000041.3:c.199del NP_000032.1:p.Glu67ArgfsTer12
NM_001302688.1:c.277del NP_001289617.1:p.Glu93ArgfsTer12
NM_001302689.1:c.199del NP_001289618.1:p.Glu67ArgfsTer12
NM_001302690.1:c.199del NP_001289619.1:p.Glu67ArgfsTer12
NM_001302691.1:c.199del NP_001289620.1:p.Glu67ArgfsTer12
NM_000041.4:c.199del MANE Select NP_000032.1:p.Glu67ArgfsTer12
NM_001302688.2:c.277del NP_001289617.1:p.Glu93ArgfsTer12
NM_001302689.2:c.199del NP_001289618.1:p.Glu67ArgfsTer12
NM_001302691.2:c.199del NP_001289620.1:p.Glu67ArgfsTer12
NM_001302690.2:c.199del NP_001289619.1:p.Glu67ArgfsTer12