Canonical Allele Identifier: CA127504
Gene: APOE HGNC NCBI

Linked Data

ClinVar Variation Id: 17853
ClinVar RCV Id: RCV000019434
dbSNP Id: rs397514254

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
ENST00000252486.8:c.415_435dup ENSP00000252486.3:p.Gly145_Gln146insGluVa...
ENST00000425718.1:c.415_435dup ENSP00000410423.1:p.Gly145_Gln146insGluVa...
ENST00000434152.5:c.493_513dup ENSP00000413653.2:p.Gly171_Gln172insGluVa...
ENST00000446996.5:c.415_435dup ENSP00000413135.1:p.Gly145_Gln146insGluVa...
NM_000041.3:c.415_435dup NP_000032.1:p.Gly145_Gln146insGluValGlnAl...
NM_001302688.1:c.493_513dup NP_001289617.1:p.Gly171_Gln172insGluValGl...
NM_001302689.1:c.415_435dup NP_001289618.1:p.Gly145_Gln146insGluValGl...
NM_001302690.1:c.415_435dup NP_001289619.1:p.Gly145_Gln146insGluValGl...
NM_001302691.1:c.415_435dup NP_001289620.1:p.Gly145_Gln146insGluValGl...
NM_000041.4:c.415_435dup MANE Select NP_000032.1:p.Gly145_Gln146insGluValGlnAl...
NM_001302688.2:c.493_513dup NP_001289617.1:p.Gly171_Gln172insGluValGl...
NM_001302689.2:c.415_435dup NP_001289618.1:p.Gly145_Gln146insGluValGl...
NM_001302691.2:c.415_435dup NP_001289620.1:p.Gly145_Gln146insGluValGl...
NM_001302690.2:c.415_435dup NP_001289619.1:p.Gly145_Gln146insGluValGl...