Canonical Allele Identifier: CA920117296
Gene: APOE HGNC NCBI

Linked Data

dbSNP Id: rs1599953718

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44908791_44908794del , CM000681.2:g.44908791_44908794del GRCh38
NC_000019.9:g.45412048_45412051del , CM000681.1:g.45412048_45412051del GRCh37
NC_000019.8:g.50103888_50103891del NCBI36
NG_007084.2:g.8010_8013del

Transcript Alleles

HGVS Amino-acid change
ENST00000252486.9:c.495_498del MANE Select ENSP00000252486.3:p.Leu166SerfsTer?
ENST00000252486.8:c.495_498del ENSP00000252486.3:p.Leu166SerfsTer?
ENST00000425718.1:c.495_498del ENSP00000410423.1:p.Leu166SerfsTer?
ENST00000434152.5:c.573_576del ENSP00000413653.2:p.Leu192SerfsTer?
ENST00000446996.5:c.495_498del ENSP00000413135.1:p.Leu166SerfsTer?
NM_000041.3:c.495_498del NP_000032.1:p.Leu166SerfsTer?
NM_001302688.1:c.573_576del NP_001289617.1:p.Leu192SerfsTer?
NM_001302689.1:c.495_498del NP_001289618.1:p.Leu166SerfsTer?
NM_001302690.1:c.495_498del NP_001289619.1:p.Leu166SerfsTer?
NM_001302691.1:c.495_498del NP_001289620.1:p.Leu166SerfsTer?
NM_000041.4:c.495_498del MANE Select NP_000032.1:p.Leu166SerfsTer?
NM_001302688.2:c.573_576del NP_001289617.1:p.Leu192SerfsTer?
NM_001302689.2:c.495_498del NP_001289618.1:p.Leu166SerfsTer?
NM_001302691.2:c.495_498del NP_001289620.1:p.Leu166SerfsTer?
NM_001302690.2:c.495_498del NP_001289619.1:p.Leu166SerfsTer?