Canonical Allele Identifier: CA633478402

Gene: APOE

Linked Data

• dbSNP Id: rs1490374271
• gnomAD v2: 19-45412116-C-CCGAGCGCGGCCTCAGCGCCATCCG
• gnomAD v3: 19-44908859-C-CCGAGCGCGGCCTCAGCGCCATCCG
• gnomAD v4: 19-44908859-C-CCGAGCGCGGCCTCAGCGCCATCCG
• MyVariant Identifiers: chr19:g.45412116_45412117insCGAGCGCGGCCTCAGCGCCATCCG (hg19) ; chr19:g.44908859_44908860insCGAGCGCGGCCTCAGCGCCATCCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44908867_44908890dup , CM000681.2:g.44908867_44908890dup	GRCh38
NC_000019.9:g.45412124_45412147dup , CM000681.1:g.45412124_45412147dup	GRCh37
NC_000019.8:g.50103964_50103987dup	NCBI36
NG_007084.2:g.8086_8109dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.571_594dup MANE Select	ENSP00000252486.3:p.Arg198_Leu199insGlyLeuSerAlaIleArgGluArg
ENST00000252486.8:c.571_594dup	ENSP00000252486.3:p.Arg198_Leu199insGlyLeuSerAlaIleArgGluArg
ENST00000425718.1:c.571_594dup	ENSP00000410423.1:p.Arg198_Leu199insGlyLeuSerAlaIleArgGluArg
ENST00000434152.5:c.649_672dup	ENSP00000413653.2:p.Arg224_Leu225insGlyLeuSerAlaIleArgGluArg
ENST00000446996.5:c.571_594dup	ENSP00000413135.1:p.Arg198_Leu199insGlyLeuSerAlaIleArgGluArg
NM_000041.3:c.571_594dup	NP_000032.1:p.Arg198_Leu199insGlyLeuSerAlaIleArgGluArg
NM_001302688.1:c.649_672dup	NP_001289617.1:p.Arg224_Leu225insGlyLeuSerAlaIleArgGluArg
NM_001302689.1:c.571_594dup	NP_001289618.1:p.Arg198_Leu199insGlyLeuSerAlaIleArgGluArg
NM_001302690.1:c.571_594dup	NP_001289619.1:p.Arg198_Leu199insGlyLeuSerAlaIleArgGluArg
NM_001302691.1:c.571_594dup	NP_001289620.1:p.Arg198_Leu199insGlyLeuSerAlaIleArgGluArg
NM_000041.4:c.571_594dup MANE Select	NP_000032.1:p.Arg198_Leu199insGlyLeuSerAlaIleArgGluArg
NM_001302688.2:c.649_672dup	NP_001289617.1:p.Arg224_Leu225insGlyLeuSerAlaIleArgGluArg
NM_001302689.2:c.571_594dup	NP_001289618.1:p.Arg198_Leu199insGlyLeuSerAlaIleArgGluArg
NM_001302691.2:c.571_594dup	NP_001289620.1:p.Arg198_Leu199insGlyLeuSerAlaIleArgGluArg
NM_001302690.2:c.571_594dup	NP_001289619.1:p.Arg198_Leu199insGlyLeuSerAlaIleArgGluArg