Canonical Allele Identifier: CA347779
Gene: APOE HGNC NCBI

Linked Data

ClinVar Variation Id: 126456
ClinVar RCV Id: RCV000202536
dbSNP Id: rs515726148

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44908792_44908794del , CM000681.2:g.44908792_44908794del GRCh38
NC_000019.9:g.45412049_45412051del , CM000681.1:g.45412049_45412051del GRCh37
NC_000019.8:g.50103889_50103891del NCBI36
NG_007084.2:g.8011_8013del

Transcript Alleles

HGVS Amino-acid change
ENST00000252486.8:c.496_498del ENSP00000252486.3:p.Leu167del
ENST00000425718.1:c.496_498del ENSP00000410423.1:p.Leu167del
ENST00000434152.5:c.574_576del ENSP00000413653.2:p.Leu193del
ENST00000446996.5:c.496_498del ENSP00000413135.1:p.Leu167del
NM_000041.3:c.496_498del NP_000032.1:p.Leu167del
NM_001302688.1:c.574_576del NP_001289617.1:p.Leu193del
NM_001302689.1:c.496_498del NP_001289618.1:p.Leu167del
NM_001302690.1:c.496_498del NP_001289619.1:p.Leu167del
NM_001302691.1:c.496_498del NP_001289620.1:p.Leu167del
NM_000041.4:c.496_498del MANE Select NP_000032.1:p.Leu167del
NM_001302688.2:c.574_576del NP_001289617.1:p.Leu193del
NM_001302689.2:c.496_498del NP_001289618.1:p.Leu167del
NM_001302691.2:c.496_498del NP_001289620.1:p.Leu167del
NM_001302690.2:c.496_498del NP_001289619.1:p.Leu167del