Canonical Allele Identifier: CA633314746

Gene: APOE

Linked Data

• dbSNP Id: rs1212949121
• gnomAD v2: 19-45411169-CAGG-C
• gnomAD v4: 19-44907912-CAGG-C
• MyVariant Identifiers: chr19:g.45411170_45411172del (hg19) ; chr19:g.44907913_44907915del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44907918_44907920del , CM000681.2:g.44907918_44907920del	GRCh38
NC_000019.9:g.45411175_45411177del , CM000681.1:g.45411175_45411177del	GRCh37
NC_000019.8:g.50103015_50103017del	NCBI36
NG_007084.2:g.7137_7139del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.202_204del MANE Select	ENSP00000252486.3:p.Glu68del
ENST00000252486.8:c.202_204del	ENSP00000252486.3:p.Glu68del
ENST00000425718.1:c.202_204del	ENSP00000410423.1:p.Glu68del
ENST00000434152.5:c.280_282del	ENSP00000413653.2:p.Glu94del
ENST00000446996.5:c.202_204del	ENSP00000413135.1:p.Glu68del
NM_000041.3:c.202_204del	NP_000032.1:p.Glu68del
NM_001302688.1:c.280_282del	NP_001289617.1:p.Glu94del
NM_001302689.1:c.202_204del	NP_001289618.1:p.Glu68del
NM_001302690.1:c.202_204del	NP_001289619.1:p.Glu68del
NM_001302691.1:c.202_204del	NP_001289620.1:p.Glu68del
NM_000041.4:c.202_204del MANE Select	NP_000032.1:p.Glu68del
NM_001302688.2:c.280_282del	NP_001289617.1:p.Glu94del
NM_001302689.2:c.202_204del	NP_001289618.1:p.Glu68del
NM_001302691.2:c.202_204del	NP_001289620.1:p.Glu68del
NM_001302690.2:c.202_204del	NP_001289619.1:p.Glu68del