Canonical Allele Identifier: CA920117275

Gene: APOE

Linked Data

• dbSNP Id: rs1599952281

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44907951_44907952insCGGCACTGAT , CM000681.2:g.44907951_44907952insCGGCACTGAT	GRCh38
NC_000019.9:g.45411208_45411209insCGGCACTGAT , CM000681.1:g.45411208_45411209insCGGCACTGAT	GRCh37
NC_000019.8:g.50103048_50103049insCGGCACTGAT	NCBI36
NG_007084.2:g.7170_7171insCGGCACTGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.235_236insCGGCACTGAT MANE Select	ENSP00000252486.3:p.Arg79ThrfsTer?
ENST00000252486.8:c.235_236insCGGCACTGAT	ENSP00000252486.3:p.Arg79ThrfsTer?
ENST00000425718.1:c.235_236insCGGCACTGAT	ENSP00000410423.1:p.Arg79ThrfsTer?
ENST00000434152.5:c.313_314insCGGCACTGAT	ENSP00000413653.2:p.Arg105ThrfsTer?
ENST00000446996.5:c.235_236insCGGCACTGAT	ENSP00000413135.1:p.Arg79ThrfsTer?
NM_000041.3:c.235_236insCGGCACTGAT	NP_000032.1:p.Arg79ThrfsTer?
NM_001302688.1:c.313_314insCGGCACTGAT	NP_001289617.1:p.Arg105ThrfsTer?
NM_001302689.1:c.235_236insCGGCACTGAT	NP_001289618.1:p.Arg79ThrfsTer?
NM_001302690.1:c.235_236insCGGCACTGAT	NP_001289619.1:p.Arg79ThrfsTer?
NM_001302691.1:c.235_236insCGGCACTGAT	NP_001289620.1:p.Arg79ThrfsTer?
NM_000041.4:c.235_236insCGGCACTGAT MANE Select	NP_000032.1:p.Arg79ThrfsTer?
NM_001302688.2:c.313_314insCGGCACTGAT	NP_001289617.1:p.Arg105ThrfsTer?
NM_001302689.2:c.235_236insCGGCACTGAT	NP_001289618.1:p.Arg79ThrfsTer?
NM_001302691.2:c.235_236insCGGCACTGAT	NP_001289620.1:p.Arg79ThrfsTer?
NM_001302690.2:c.235_236insCGGCACTGAT	NP_001289619.1:p.Arg79ThrfsTer?