Canonical Allele Identifier: CA2580097377

Gene: APOE

Linked Data

• ClinVar Variation Id: 17861
• ClinVar RCV Id: RCV000019444
• dbSNP Id: rs2122132718

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44907862del , CM000681.2:g.44907862del	GRCh38
NC_000019.9:g.45411119del , CM000681.1:g.45411119del	GRCh37
NC_000019.8:g.50102959del	NCBI36
NG_007084.2:g.7081del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252486.9:c.146del MANE Select	ENSP00000252486.3:p.Gly49ValfsTer30
ENST00000252486.8:c.146del	ENSP00000252486.3:p.Gly49ValfsTer30
ENST00000425718.1:c.146del	ENSP00000410423.1:p.Gly49ValfsTer30
ENST00000434152.5:c.224del	ENSP00000413653.2:p.Gly75ValfsTer30
ENST00000446996.5:c.146del	ENSP00000413135.1:p.Gly49ValfsTer30
NM_000041.3:c.146del	NP_000032.1:p.Gly49ValfsTer30
NM_001302688.1:c.224del	NP_001289617.1:p.Gly75ValfsTer30
NM_001302689.1:c.146del	NP_001289618.1:p.Gly49ValfsTer30
NM_001302690.1:c.146del	NP_001289619.1:p.Gly49ValfsTer30
NM_001302691.1:c.146del	NP_001289620.1:p.Gly49ValfsTer30
NM_000041.4:c.146del MANE Select	NP_000032.1:p.Gly49ValfsTer30
NM_001302688.2:c.224del	NP_001289617.1:p.Gly75ValfsTer30
NM_001302689.2:c.146del	NP_001289618.1:p.Gly49ValfsTer30
NM_001302691.2:c.146del	NP_001289620.1:p.Gly49ValfsTer30
NM_001302690.2:c.146del	NP_001289619.1:p.Gly49ValfsTer30