Canonical Allele Identifier: CA2585715438
Gene: APOE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44908687_44908692del , CM000681.2:g.44908687_44908692del GRCh38
NC_000019.9:g.45411944_45411949del , CM000681.1:g.45411944_45411949del GRCh37
NC_000019.8:g.50103784_50103789del NCBI36
NG_007084.2:g.7906_7911del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252486.9:c.391_396del MANE Select ENSP00000252486.3:p.Gly131_Arg132del
ENST00000252486.8:c.391_396del ENSP00000252486.3:p.Gly131_Arg132del
ENST00000425718.1:c.391_396del ENSP00000410423.1:p.Gly131_Arg132del
ENST00000434152.5:c.469_474del ENSP00000413653.2:p.Gly157_Arg158del
ENST00000446996.5:c.391_396del ENSP00000413135.1:p.Gly131_Arg132del
NM_000041.3:c.391_396del NP_000032.1:p.Gly131_Arg132del
NM_001302688.1:c.469_474del NP_001289617.1:p.Gly157_Arg158del
NM_001302689.1:c.391_396del NP_001289618.1:p.Gly131_Arg132del
NM_001302690.1:c.391_396del NP_001289619.1:p.Gly131_Arg132del
NM_001302691.1:c.391_396del NP_001289620.1:p.Gly131_Arg132del
NM_000041.4:c.391_396del MANE Select NP_000032.1:p.Gly131_Arg132del
NM_001302688.2:c.469_474del NP_001289617.1:p.Gly157_Arg158del
NM_001302689.2:c.391_396del NP_001289618.1:p.Gly131_Arg132del
NM_001302691.2:c.391_396del NP_001289620.1:p.Gly131_Arg132del
NM_001302690.2:c.391_396del NP_001289619.1:p.Gly131_Arg132del