Canonical Allele Identifier: CA2814526212
Gene: APOE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44907951_44907952insCGGCACTGATGGAGGACACTATGACGGAAGTAAAGGCTTACAAAAAGGAGCT , CM000681.2:g.44907951_44907952insCGGCACTGATGGAGGACACTATGACGGAAGTAAAGGCTTACAAAAAGGAGCT GRCh38
NC_000019.9:g.45411208_45411209insCGGCACTGATGGAGGACACTATGACGGAAGTAAAGGCTTACAAAAAGGAGCT , CM000681.1:g.45411208_45411209insCGGCACTGATGGAGGACACTATGACGGAAGTAAAGGCTTACAAAAAGGAGCT GRCh37
NC_000019.8:g.50103048_50103049insCGGCACTGATGGAGGACACTATGACGGAAGTAAAGGCTTACAAAAAGGAGCT NCBI36
NG_007084.2:g.7170_7171insCGGCACTGATGGAGGACACTATGACGGAAGTAAAGGCTTACAAAAAGGAGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000252486.9:c.235_236insCGGCACTGATGGAGGACACTATGACGGAAGTAAAGGCTTACAAAAAGGAGCT MANE Select ENSP00000252486.3:p.Arg79ThrfsTer?
ENST00000252486.8:c.235_236insCGGCACTGATGGAGGACACTATGACGGAAGTAAAGGCTTACAAAAAGGAGCT ENSP00000252486.3:p.Arg79ThrfsTer?
ENST00000425718.1:c.235_236insCGGCACTGATGGAGGACACTATGACGGAAGTAAAGGCTTACAAAAAGGAGCT ENSP00000410423.1:p.Arg79ThrfsTer?
ENST00000434152.5:c.313_314insCGGCACTGATGGAGGACACTATGACGGAAGTAAAGGCTTACAAAAAGGAGCT ENSP00000413653.2:p.Arg105ThrfsTer?
ENST00000446996.5:c.235_236insCGGCACTGATGGAGGACACTATGACGGAAGTAAAGGCTTACAAAAAGGAGCT ENSP00000413135.1:p.Arg79ThrfsTer?
NM_000041.3:c.235_236insCGGCACTGATGGAGGACACTATGACGGAAGTAAAGGCTTACAAAAAGGAGCT NP_000032.1:p.Arg79ThrfsTer?
NM_001302688.1:c.313_314insCGGCACTGATGGAGGACACTATGACGGAAGTAAAGGCTTACAAAAAGGAGCT NP_001289617.1:p.Arg105ThrfsTer?
NM_001302689.1:c.235_236insCGGCACTGATGGAGGACACTATGACGGAAGTAAAGGCTTACAAAAAGGAGCT NP_001289618.1:p.Arg79ThrfsTer?
NM_001302690.1:c.235_236insCGGCACTGATGGAGGACACTATGACGGAAGTAAAGGCTTACAAAAAGGAGCT NP_001289619.1:p.Arg79ThrfsTer?
NM_001302691.1:c.235_236insCGGCACTGATGGAGGACACTATGACGGAAGTAAAGGCTTACAAAAAGGAGCT NP_001289620.1:p.Arg79ThrfsTer?
NM_000041.4:c.235_236insCGGCACTGATGGAGGACACTATGACGGAAGTAAAGGCTTACAAAAAGGAGCT MANE Select NP_000032.1:p.Arg79ThrfsTer?
NM_001302688.2:c.313_314insCGGCACTGATGGAGGACACTATGACGGAAGTAAAGGCTTACAAAAAGGAGCT NP_001289617.1:p.Arg105ThrfsTer?
NM_001302689.2:c.235_236insCGGCACTGATGGAGGACACTATGACGGAAGTAAAGGCTTACAAAAAGGAGCT NP_001289618.1:p.Arg79ThrfsTer?
NM_001302691.2:c.235_236insCGGCACTGATGGAGGACACTATGACGGAAGTAAAGGCTTACAAAAAGGAGCT NP_001289620.1:p.Arg79ThrfsTer?
NM_001302690.2:c.235_236insCGGCACTGATGGAGGACACTATGACGGAAGTAAAGGCTTACAAAAAGGAGCT NP_001289619.1:p.Arg79ThrfsTer?