Canonical Allele Identifier: CA9506040

Gene: APOE

Linked Data

• dbSNP Id: rs761350032
• ExAC: 19:45411879 C / CA
• gnomAD v2: 19-45411879-C-CA
• gnomAD v4: 19-44908622-C-CA
• MyVariant Identifiers: chr19:g.45411879_45411880insA (hg19) ; chr19:g.44908622_44908623insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.44908623dup , CM000681.2:g.44908623dup	GRCh38
NC_000019.9:g.45411880dup , CM000681.1:g.45411880dup	GRCh37
NC_000019.8:g.50103720dup	NCBI36
NG_007084.2:g.7842dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252486.9:c.327dup MANE Select	ENSP00000252486.3:p.Arg110ThrfsTer?
ENST00000252486.8:c.327dup	ENSP00000252486.3:p.Arg110ThrfsTer?
ENST00000425718.1:c.327dup	ENSP00000410423.1:p.Arg110ThrfsTer?
ENST00000434152.5:c.405dup	ENSP00000413653.2:p.Arg136ThrfsTer?
ENST00000446996.5:c.327dup	ENSP00000413135.1:p.Arg110ThrfsTer?
NM_000041.3:c.327dup	NP_000032.1:p.Arg110ThrfsTer?
NM_001302688.1:c.405dup	NP_001289617.1:p.Arg136ThrfsTer?
NM_001302689.1:c.327dup	NP_001289618.1:p.Arg110ThrfsTer?
NM_001302690.1:c.327dup	NP_001289619.1:p.Arg110ThrfsTer?
NM_001302691.1:c.327dup	NP_001289620.1:p.Arg110ThrfsTer?
NM_000041.4:c.327dup MANE Select	NP_000032.1:p.Arg110ThrfsTer?
NM_001302688.2:c.405dup	NP_001289617.1:p.Arg136ThrfsTer?
NM_001302689.2:c.327dup	NP_001289618.1:p.Arg110ThrfsTer?
NM_001302691.2:c.327dup	NP_001289620.1:p.Arg110ThrfsTer?
NM_001302690.2:c.327dup	NP_001289619.1:p.Arg110ThrfsTer?