Canonical Allele Identifier: CA2585715442
Gene: APOE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44908773_44908780del , CM000681.2:g.44908773_44908780del GRCh38
NC_000019.9:g.45412030_45412037del , CM000681.1:g.45412030_45412037del GRCh37
NC_000019.8:g.50103870_50103877del NCBI36
NG_007084.2:g.7992_7999del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252486.9:c.477_484del MANE Select ENSP00000252486.3:p.Arg160AlafsTer2
ENST00000252486.8:c.477_484del ENSP00000252486.3:p.Arg160AlafsTer2
ENST00000425718.1:c.477_484del ENSP00000410423.1:p.Arg160AlafsTer2
ENST00000434152.5:c.555_562del ENSP00000413653.2:p.Arg186AlafsTer2
ENST00000446996.5:c.477_484del ENSP00000413135.1:p.Arg160AlafsTer2
NM_000041.3:c.477_484del NP_000032.1:p.Arg160AlafsTer2
NM_001302688.1:c.555_562del NP_001289617.1:p.Arg186AlafsTer2
NM_001302689.1:c.477_484del NP_001289618.1:p.Arg160AlafsTer2
NM_001302690.1:c.477_484del NP_001289619.1:p.Arg160AlafsTer2
NM_001302691.1:c.477_484del NP_001289620.1:p.Arg160AlafsTer2
NM_000041.4:c.477_484del MANE Select NP_000032.1:p.Arg160AlafsTer2
NM_001302688.2:c.555_562del NP_001289617.1:p.Arg186AlafsTer2
NM_001302689.2:c.477_484del NP_001289618.1:p.Arg160AlafsTer2
NM_001302691.2:c.477_484del NP_001289620.1:p.Arg160AlafsTer2
NM_001302690.2:c.477_484del NP_001289619.1:p.Arg160AlafsTer2