Canonical Allele Identifier: CA2585715446

Gene: APOE

Linked Data

• gnomAD v4: 19-44908847-CCCGCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44908848_44908852del , CM000681.2:g.44908848_44908852del	GRCh38
NC_000019.9:g.45412105_45412109del , CM000681.1:g.45412105_45412109del	GRCh37
NC_000019.8:g.50103945_50103949del	NCBI36
NG_007084.2:g.8067_8071del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.552_556del MANE Select	ENSP00000252486.3:p.Arg185GlyfsTer?
ENST00000252486.8:c.552_556del	ENSP00000252486.3:p.Arg185GlyfsTer?
ENST00000425718.1:c.552_556del	ENSP00000410423.1:p.Arg185GlyfsTer?
ENST00000434152.5:c.630_634del	ENSP00000413653.2:p.Arg211GlyfsTer?
ENST00000446996.5:c.552_556del	ENSP00000413135.1:p.Arg185GlyfsTer?
NM_000041.3:c.552_556del	NP_000032.1:p.Arg185GlyfsTer?
NM_001302688.1:c.630_634del	NP_001289617.1:p.Arg211GlyfsTer?
NM_001302689.1:c.552_556del	NP_001289618.1:p.Arg185GlyfsTer?
NM_001302690.1:c.552_556del	NP_001289619.1:p.Arg185GlyfsTer?
NM_001302691.1:c.552_556del	NP_001289620.1:p.Arg185GlyfsTer?
NM_000041.4:c.552_556del MANE Select	NP_000032.1:p.Arg185GlyfsTer?
NM_001302688.2:c.630_634del	NP_001289617.1:p.Arg211GlyfsTer?
NM_001302689.2:c.552_556del	NP_001289618.1:p.Arg185GlyfsTer?
NM_001302691.2:c.552_556del	NP_001289620.1:p.Arg185GlyfsTer?
NM_001302690.2:c.552_556del	NP_001289619.1:p.Arg185GlyfsTer?