Canonical Allele Identifier: CA2585715460

Gene: APOE

Linked Data

• gnomAD v4: 19-44909030-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44909032dup , CM000681.2:g.44909032dup	GRCh38
NC_000019.9:g.45412289dup , CM000681.1:g.45412289dup	GRCh37
NC_000019.8:g.50104129dup	NCBI36
NG_007084.2:g.8251dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.736dup MANE Select	ENSP00000252486.3:p.Arg246ProfsTer?
ENST00000252486.8:c.736dup	ENSP00000252486.3:p.Arg246ProfsTer?
NM_000041.3:c.736dup	NP_000032.1:p.Arg246ProfsTer?
NM_001302688.1:c.814dup	NP_001289617.1:p.Arg272ProfsTer?
NM_001302689.1:c.736dup	NP_001289618.1:p.Arg246ProfsTer?
NM_001302690.1:c.736dup	NP_001289619.1:p.Arg246ProfsTer?
NM_001302691.1:c.736dup	NP_001289620.1:p.Arg246ProfsTer?
NM_000041.4:c.736dup MANE Select	NP_000032.1:p.Arg246ProfsTer?
NM_001302688.2:c.814dup	NP_001289617.1:p.Arg272ProfsTer?
NM_001302689.2:c.736dup	NP_001289618.1:p.Arg246ProfsTer?
NM_001302691.2:c.736dup	NP_001289620.1:p.Arg246ProfsTer?
NM_001302690.2:c.736dup	NP_001289619.1:p.Arg246ProfsTer?