Canonical Allele Identifier: CA2838290651
Gene: APOE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44909048del , CM000681.2:g.44909048del GRCh38
NC_000019.9:g.45412305del , CM000681.1:g.45412305del GRCh37
NC_000019.8:g.50104145del NCBI36
NG_007084.2:g.8267del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252486.9:c.752del MANE Select ENSP00000252486.3:p.Lys251ArgfsTer?
ENST00000252486.8:c.752del ENSP00000252486.3:p.Lys251ArgfsTer?
NM_000041.3:c.752del NP_000032.1:p.Lys251ArgfsTer?
NM_001302688.1:c.830del NP_001289617.1:p.Lys277ArgfsTer?
NM_001302689.1:c.752del NP_001289618.1:p.Lys251ArgfsTer?
NM_001302690.1:c.752del NP_001289619.1:p.Lys251ArgfsTer?
NM_001302691.1:c.752del NP_001289620.1:p.Lys251ArgfsTer?
NM_000041.4:c.752del MANE Select NP_000032.1:p.Lys251ArgfsTer?
NM_001302688.2:c.830del NP_001289617.1:p.Lys277ArgfsTer?
NM_001302689.2:c.752del NP_001289618.1:p.Lys251ArgfsTer?
NM_001302691.2:c.752del NP_001289620.1:p.Lys251ArgfsTer?
NM_001302690.2:c.752del NP_001289619.1:p.Lys251ArgfsTer?