Canonical Allele Identifier: CA2338167833
Gene: APOE HGNC NCBI

Linked Data

dbSNP Id: rs1969854018

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44908546_44908550dup , CM000681.2:g.44908546_44908550dup GRCh38
NC_000019.9:g.45411803_45411807dup , CM000681.1:g.45411803_45411807dup GRCh37
NC_000019.8:g.50103643_50103647dup NCBI36
NG_007084.2:g.7765_7769dup

Transcript Alleles

HGVS Amino-acid change
ENST00000252486.9:c.250_254dup MANE Select ENSP00000252486.3:p.Met86ArgfsTer3
ENST00000252486.8:c.250_254dup ENSP00000252486.3:p.Met86ArgfsTer3
ENST00000425718.1:c.250_254dup ENSP00000410423.1:p.Met86ArgfsTer3
ENST00000434152.5:c.328_332dup ENSP00000413653.2:p.Met112ArgfsTer3
ENST00000446996.5:c.250_254dup ENSP00000413135.1:p.Met86ArgfsTer3
NM_000041.3:c.250_254dup NP_000032.1:p.Met86ArgfsTer3
NM_001302688.1:c.328_332dup NP_001289617.1:p.Met112ArgfsTer3
NM_001302689.1:c.250_254dup NP_001289618.1:p.Met86ArgfsTer3
NM_001302690.1:c.250_254dup NP_001289619.1:p.Met86ArgfsTer3
NM_001302691.1:c.250_254dup NP_001289620.1:p.Met86ArgfsTer3
NM_000041.4:c.250_254dup MANE Select NP_000032.1:p.Met86ArgfsTer3
NM_001302688.2:c.328_332dup NP_001289617.1:p.Met112ArgfsTer3
NM_001302689.2:c.250_254dup NP_001289618.1:p.Met86ArgfsTer3
NM_001302691.2:c.250_254dup NP_001289620.1:p.Met86ArgfsTer3
NM_001302690.2:c.250_254dup NP_001289619.1:p.Met86ArgfsTer3