Canonical Allele Identifier: CA2695228866
Gene: APOE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44908817_44908870del , CM000681.2:g.44908817_44908870del GRCh38
NC_000019.9:g.45412074_45412127del , CM000681.1:g.45412074_45412127del GRCh37
NC_000019.8:g.50103914_50103967del NCBI36
NG_007084.2:g.8036_8089del

Transcript Alleles

HGVS Amino-acid change
ENST00000252486.9:c.521_574del MANE Select ENSP00000252486.3:p.Gln174_Gly191del
ENST00000252486.8:c.521_574del ENSP00000252486.3:p.Gln174_Gly191del
ENST00000425718.1:c.521_574del ENSP00000410423.1:p.Gln174_Gly191del
ENST00000434152.5:c.599_652del ENSP00000413653.2:p.Gln200_Gly217del
ENST00000446996.5:c.521_574del ENSP00000413135.1:p.Gln174_Gly191del
NM_000041.3:c.521_574del NP_000032.1:p.Gln174_Gly191del
NM_001302688.1:c.599_652del NP_001289617.1:p.Gln200_Gly217del
NM_001302689.1:c.521_574del NP_001289618.1:p.Gln174_Gly191del
NM_001302690.1:c.521_574del NP_001289619.1:p.Gln174_Gly191del
NM_001302691.1:c.521_574del NP_001289620.1:p.Gln174_Gly191del
NM_000041.4:c.521_574del MANE Select NP_000032.1:p.Gln174_Gly191del
NM_001302688.2:c.599_652del NP_001289617.1:p.Gln200_Gly217del
NM_001302689.2:c.521_574del NP_001289618.1:p.Gln174_Gly191del
NM_001302691.2:c.521_574del NP_001289620.1:p.Gln174_Gly191del
NM_001302690.2:c.521_574del NP_001289619.1:p.Gln174_Gly191del