Canonical Allele Identifier: CA2695228864
Gene: APOE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44908788_44908789delinsCT , CM000681.2:g.44908788_44908789delinsCT GRCh38
NC_000019.9:g.45412045_45412046delinsCT , CM000681.1:g.45412045_45412046delinsCT GRCh37
NC_000019.8:g.50103885_50103886delinsCT NCBI36
NG_007084.2:g.8007_8008delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000252486.9:c.492_493delinsCT MANE Select ENSP00000252486.3:p.Lys164_Arg165delinsAs...
ENST00000252486.8:c.492_493delinsCT ENSP00000252486.3:p.Lys164_Arg165delinsAs...
ENST00000425718.1:c.492_493delinsCT ENSP00000410423.1:p.Lys164_Arg165delinsAs...
ENST00000434152.5:c.570_571delinsCT ENSP00000413653.2:p.Lys190_Arg191delinsAs...
ENST00000446996.5:c.492_493delinsCT ENSP00000413135.1:p.Lys164_Arg165delinsAs...
NM_000041.3:c.492_493delinsCT NP_000032.1:p.Lys164_Arg165delinsAsnTrp
NM_001302688.1:c.570_571delinsCT NP_001289617.1:p.Lys190_Arg191delinsAsnTr...
NM_001302689.1:c.492_493delinsCT NP_001289618.1:p.Lys164_Arg165delinsAsnTr...
NM_001302690.1:c.492_493delinsCT NP_001289619.1:p.Lys164_Arg165delinsAsnTr...
NM_001302691.1:c.492_493delinsCT NP_001289620.1:p.Lys164_Arg165delinsAsnTr...
NM_000041.4:c.492_493delinsCT MANE Select NP_000032.1:p.Lys164_Arg165delinsAsnTrp
NM_001302688.2:c.570_571delinsCT NP_001289617.1:p.Lys190_Arg191delinsAsnTr...
NM_001302689.2:c.492_493delinsCT NP_001289618.1:p.Lys164_Arg165delinsAsnTr...
NM_001302691.2:c.492_493delinsCT NP_001289620.1:p.Lys164_Arg165delinsAsnTr...
NM_001302690.2:c.492_493delinsCT NP_001289619.1:p.Lys164_Arg165delinsAsnTr...