Canonical Allele Identifier: CA920117261
Gene: APOE HGNC NCBI

Linked Data

dbSNP Id: rs1599951124

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44906889_44906890del , CM000681.2:g.44906889_44906890del GRCh38
NC_000019.9:g.45410146_45410147del , CM000681.1:g.45410146_45410147del GRCh37
NC_000019.8:g.50101986_50101987del NCBI36
NG_007084.2:g.6108_6109del

Transcript Alleles

HGVS Amino-acid Change
ENST00000252486.9:c.43+222_43+223del MANE Select ENSP00000252486.3:n.43+222_43+223del
ENST00000252486.8:c.43+222_43+223del ENSP00000252486.3:n.43+222_43+223del
ENST00000425718.1:c.43+222_43+223del ENSP00000410423.1:n.43+222_43+223del
ENST00000434152.5:c.121+222_121+223del ENSP00000413653.2:n.121+222_121+223del
ENST00000446996.5:c.43+222_43+223del ENSP00000413135.1:n.43+222_43+223del
ENST00000485628.2:n.334_335del
NM_000041.3:c.43+222_43+223del NP_000032.1:n.43+222_43+223del
NM_001302688.1:c.121+222_121+223del NP_001289617.1:n.121+222_121+223del
NM_001302689.1:c.43+222_43+223del NP_001289618.1:n.43+222_43+223del
NM_001302690.1:c.43+222_43+223del NP_001289619.1:n.43+222_43+223del
NM_001302691.1:c.43+222_43+223del NP_001289620.1:n.43+222_43+223del
NM_000041.4:c.43+222_43+223del MANE Select NP_000032.1:n.43+222_43+223del
NM_001302688.2:c.121+222_121+223del NP_001289617.1:n.121+222_121+223del
NM_001302689.2:c.43+222_43+223del NP_001289618.1:n.43+222_43+223del
NM_001302691.2:c.43+222_43+223del NP_001289620.1:n.43+222_43+223del
NM_001302690.2:c.43+222_43+223del NP_001289619.1:n.43+222_43+223del