Canonical Allele Identifier: CA127504

Gene: APOE

Linked Data

• ClinVar Variation Id: 17853
• ClinVar RCV Id: RCV000019434
• dbSNP Id: rs397514254
• gnomAD v4: 19-44908706-G-GCGGCGAGGTGCAGGCCATGCT
• MyVariant Identifiers: chr19:g.45411968_45411988dup21 (hg19) ; chr19:g.44908711_44908731dup21 (hg38)
• PubMed: PMID:2556398 ; PMID:3721502 ; PMID:7175379 ; PMID:15096402

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44908711_44908731dup , CM000681.2:g.44908711_44908731dup	GRCh38
NC_000019.9:g.45411968_45411988dup , CM000681.1:g.45411968_45411988dup	GRCh37
NC_000019.8:g.50103808_50103828dup	NCBI36
NG_007084.2:g.7930_7950dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.415_435dup MANE Select	ENSP00000252486.3:p.Gly145_Gln146insGluValGlnAlaMetLeuGly
ENST00000252486.8:c.415_435dup	ENSP00000252486.3:p.Gly145_Gln146insGluValGlnAlaMetLeuGly
ENST00000425718.1:c.415_435dup	ENSP00000410423.1:p.Gly145_Gln146insGluValGlnAlaMetLeuGly
ENST00000434152.5:c.493_513dup	ENSP00000413653.2:p.Gly171_Gln172insGluValGlnAlaMetLeuGly
ENST00000446996.5:c.415_435dup	ENSP00000413135.1:p.Gly145_Gln146insGluValGlnAlaMetLeuGly
NM_000041.3:c.415_435dup	NP_000032.1:p.Gly145_Gln146insGluValGlnAlaMetLeuGly
NM_001302688.1:c.493_513dup	NP_001289617.1:p.Gly171_Gln172insGluValGlnAlaMetLeuGly
NM_001302689.1:c.415_435dup	NP_001289618.1:p.Gly145_Gln146insGluValGlnAlaMetLeuGly
NM_001302690.1:c.415_435dup	NP_001289619.1:p.Gly145_Gln146insGluValGlnAlaMetLeuGly
NM_001302691.1:c.415_435dup	NP_001289620.1:p.Gly145_Gln146insGluValGlnAlaMetLeuGly
NM_000041.4:c.415_435dup MANE Select	NP_000032.1:p.Gly145_Gln146insGluValGlnAlaMetLeuGly
NM_001302688.2:c.493_513dup	NP_001289617.1:p.Gly171_Gln172insGluValGlnAlaMetLeuGly
NM_001302689.2:c.415_435dup	NP_001289618.1:p.Gly145_Gln146insGluValGlnAlaMetLeuGly
NM_001302691.2:c.415_435dup	NP_001289620.1:p.Gly145_Gln146insGluValGlnAlaMetLeuGly
NM_001302690.2:c.415_435dup	NP_001289619.1:p.Gly145_Gln146insGluValGlnAlaMetLeuGly