Canonical Allele Identifier: CA996247279

Gene: APOE

Linked Data

• dbSNP Id: rs1969844940
• gnomAD v3: 19-44908115-TTC-T
• gnomAD v4: 19-44908115-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44908124_44908125del , CM000681.2:g.44908124_44908125del	GRCh38
NC_000019.9:g.45411381_45411382del , CM000681.1:g.45411381_45411382del	GRCh37
NC_000019.8:g.50103221_50103222del	NCBI36
NG_007084.2:g.7343_7344del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.236+172_236+173del MANE Select	ENSP00000252486.3:n.236+172_236+173del
ENST00000252486.8:c.236+172_236+173del	ENSP00000252486.3:n.236+172_236+173del
ENST00000425718.1:c.236+172_236+173del	ENSP00000410423.1:n.236+172_236+173del
ENST00000434152.5:c.314+172_314+173del	ENSP00000413653.2:n.314+172_314+173del
ENST00000446996.5:c.236+172_236+173del	ENSP00000413135.1:n.236+172_236+173del
NM_000041.3:c.236+172_236+173del	NP_000032.1:n.236+172_236+173del
NM_001302688.1:c.314+172_314+173del	NP_001289617.1:n.314+172_314+173del
NM_001302689.1:c.236+172_236+173del	NP_001289618.1:n.236+172_236+173del
NM_001302690.1:c.236+172_236+173del	NP_001289619.1:n.236+172_236+173del
NM_001302691.1:c.236+172_236+173del	NP_001289620.1:n.236+172_236+173del
NM_000041.4:c.236+172_236+173del MANE Select	NP_000032.1:n.236+172_236+173del
NM_001302688.2:c.314+172_314+173del	NP_001289617.1:n.314+172_314+173del
NM_001302689.2:c.236+172_236+173del	NP_001289618.1:n.236+172_236+173del
NM_001302691.2:c.236+172_236+173del	NP_001289620.1:n.236+172_236+173del
NM_001302690.2:c.236+172_236+173del	NP_001289619.1:n.236+172_236+173del