Canonical Allele Identifier: CA2832581486
Gene: APOE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44908048_44908049dup , CM000681.2:g.44908048_44908049dup GRCh38
NC_000019.9:g.45411305_45411306dup , CM000681.1:g.45411305_45411306dup GRCh37
NC_000019.8:g.50103145_50103146dup NCBI36
NG_007084.2:g.7267_7268dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252486.9:c.236+96_236+97dup MANE Select ENSP00000252486.3:n.236+96_236+97dup
ENST00000252486.8:c.236+96_236+97dup ENSP00000252486.3:n.236+96_236+97dup
ENST00000425718.1:c.236+96_236+97dup ENSP00000410423.1:n.236+96_236+97dup
ENST00000434152.5:c.314+96_314+97dup ENSP00000413653.2:n.314+96_314+97dup
ENST00000446996.5:c.236+96_236+97dup ENSP00000413135.1:n.236+96_236+97dup
NM_000041.3:c.236+96_236+97dup NP_000032.1:n.236+96_236+97dup
NM_001302688.1:c.314+96_314+97dup NP_001289617.1:n.314+96_314+97dup
NM_001302689.1:c.236+96_236+97dup NP_001289618.1:n.236+96_236+97dup
NM_001302690.1:c.236+96_236+97dup NP_001289619.1:n.236+96_236+97dup
NM_001302691.1:c.236+96_236+97dup NP_001289620.1:n.236+96_236+97dup
NM_000041.4:c.236+96_236+97dup MANE Select NP_000032.1:n.236+96_236+97dup
NM_001302688.2:c.314+96_314+97dup NP_001289617.1:n.314+96_314+97dup
NM_001302689.2:c.236+96_236+97dup NP_001289618.1:n.236+96_236+97dup
NM_001302691.2:c.236+96_236+97dup NP_001289620.1:n.236+96_236+97dup
NM_001302690.2:c.236+96_236+97dup NP_001289619.1:n.236+96_236+97dup