Canonical Allele Identifier: CA2585715469

Gene: APOE

Linked Data

• gnomAD v4: 19-44909144-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44909145del , CM000681.2:g.44909145del	GRCh38
NC_000019.9:g.45412402del , CM000681.1:g.45412402del	GRCh37
NC_000019.8:g.50104242del	NCBI36
NG_007084.2:g.8364del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252486.9:c.849del MANE Select	ENSP00000252486.3:p.Phe283LeufsTer?
ENST00000252486.8:c.849del	ENSP00000252486.3:p.Phe283LeufsTer?
NM_000041.3:c.849del	NP_000032.1:p.Phe283LeufsTer?
NM_001302688.1:c.927del	NP_001289617.1:p.Phe309LeufsTer?
NM_001302689.1:c.849del	NP_001289618.1:p.Phe283LeufsTer?
NM_001302690.1:c.849del	NP_001289619.1:p.Phe283LeufsTer?
NM_001302691.1:c.849del	NP_001289620.1:p.Phe283LeufsTer?
NM_000041.4:c.849del MANE Select	NP_000032.1:p.Phe283LeufsTer?
NM_001302688.2:c.927del	NP_001289617.1:p.Phe309LeufsTer?
NM_001302689.2:c.849del	NP_001289618.1:p.Phe283LeufsTer?
NM_001302691.2:c.849del	NP_001289620.1:p.Phe283LeufsTer?
NM_001302690.2:c.849del	NP_001289619.1:p.Phe283LeufsTer?