Canonical Allele Identifier: CA2585715461

Gene: APOE

Linked Data

• gnomAD v4: 19-44909031-C-CCGCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44909032_44909036dup , CM000681.2:g.44909032_44909036dup	GRCh38
NC_000019.9:g.45412289_45412293dup , CM000681.1:g.45412289_45412293dup	GRCh37
NC_000019.8:g.50104129_50104133dup	NCBI36
NG_007084.2:g.8251_8255dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.736_740dup MANE Select	ENSP00000252486.3:p.Asp248AlafsTer5
ENST00000252486.8:c.736_740dup	ENSP00000252486.3:p.Asp248AlafsTer5
NM_000041.3:c.736_740dup	NP_000032.1:p.Asp248AlafsTer5
NM_001302688.1:c.814_818dup	NP_001289617.1:p.Asp274AlafsTer5
NM_001302689.1:c.736_740dup	NP_001289618.1:p.Asp248AlafsTer5
NM_001302690.1:c.736_740dup	NP_001289619.1:p.Asp248AlafsTer5
NM_001302691.1:c.736_740dup	NP_001289620.1:p.Asp248AlafsTer5
NM_000041.4:c.736_740dup MANE Select	NP_000032.1:p.Asp248AlafsTer5
NM_001302688.2:c.814_818dup	NP_001289617.1:p.Asp274AlafsTer5
NM_001302689.2:c.736_740dup	NP_001289618.1:p.Asp248AlafsTer5
NM_001302691.2:c.736_740dup	NP_001289620.1:p.Asp248AlafsTer5
NM_001302690.2:c.736_740dup	NP_001289619.1:p.Asp248AlafsTer5