Canonical Allele Identifier: CA2585715455

Gene: APOE

Linked Data

• gnomAD v4: 19-44908975-GCCTGGGGCGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44908976_44908985del , CM000681.2:g.44908976_44908985del	GRCh38
NC_000019.9:g.45412233_45412242del , CM000681.1:g.45412233_45412242del	GRCh37
NC_000019.8:g.50104073_50104082del	NCBI36
NG_007084.2:g.8195_8204del

Transcript Alleles

HGVS	Amino-acid change
ENST00000252486.9:c.680_689del MANE Select	ENSP00000252486.3:p.Ala227GlyfsTer21
ENST00000252486.8:c.680_689del	ENSP00000252486.3:p.Ala227GlyfsTer21
ENST00000434152.5:c.758_767del	ENSP00000413653.2:p.Ala253GlyfsTer?
NM_000041.3:c.680_689del	NP_000032.1:p.Ala227GlyfsTer21
NM_001302688.1:c.758_767del	NP_001289617.1:p.Ala253GlyfsTer21
NM_001302689.1:c.680_689del	NP_001289618.1:p.Ala227GlyfsTer21
NM_001302690.1:c.680_689del	NP_001289619.1:p.Ala227GlyfsTer21
NM_001302691.1:c.680_689del	NP_001289620.1:p.Ala227GlyfsTer21
NM_000041.4:c.680_689del MANE Select	NP_000032.1:p.Ala227GlyfsTer21
NM_001302688.2:c.758_767del	NP_001289617.1:p.Ala253GlyfsTer21
NM_001302689.2:c.680_689del	NP_001289618.1:p.Ala227GlyfsTer21
NM_001302691.2:c.680_689del	NP_001289620.1:p.Ala227GlyfsTer21
NM_001302690.2:c.680_689del	NP_001289619.1:p.Ala227GlyfsTer21