Canonical Allele Identifier: CA2695228868
Gene: APOE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44908891_44908892del , CM000681.2:g.44908891_44908892del GRCh38
NC_000019.9:g.45412148_45412149del , CM000681.1:g.45412148_45412149del GRCh37
NC_000019.8:g.50103988_50103989del NCBI36
NG_007084.2:g.8110_8111del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252486.9:c.595_596del MANE Select ENSP00000252486.3:p.Leu199GlyfsTer?
ENST00000252486.8:c.595_596del ENSP00000252486.3:p.Leu199GlyfsTer?
ENST00000425718.1:c.595_596del ENSP00000410423.1:p.Leu199GlyfsTer?
ENST00000434152.5:c.673_674del ENSP00000413653.2:p.Leu225GlyfsTer?
ENST00000446996.5:c.595_596del ENSP00000413135.1:p.Leu199GlyfsTer?
NM_000041.3:c.595_596del NP_000032.1:p.Leu199GlyfsTer?
NM_001302688.1:c.673_674del NP_001289617.1:p.Leu225GlyfsTer?
NM_001302689.1:c.595_596del NP_001289618.1:p.Leu199GlyfsTer?
NM_001302690.1:c.595_596del NP_001289619.1:p.Leu199GlyfsTer?
NM_001302691.1:c.595_596del NP_001289620.1:p.Leu199GlyfsTer?
NM_000041.4:c.595_596del MANE Select NP_000032.1:p.Leu199GlyfsTer?
NM_001302688.2:c.673_674del NP_001289617.1:p.Leu225GlyfsTer?
NM_001302689.2:c.595_596del NP_001289618.1:p.Leu199GlyfsTer?
NM_001302691.2:c.595_596del NP_001289620.1:p.Leu199GlyfsTer?
NM_001302690.2:c.595_596del NP_001289619.1:p.Leu199GlyfsTer?