Canonical Allele Identifier: CA2002740670
Gene: APOA5 HGNC NCBI

Linked Data

dbSNP Id: rs1940989820

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116790648_116790651del , CM000673.2:g.116790648_116790651del GRCh38
NC_000011.9:g.116661364_116661367del , CM000673.1:g.116661364_116661367del GRCh37
NC_000011.8:g.116166574_116166577del NCBI36
NG_015894.1:g.6771_6774del
NG_015894.2:g.6771_6774del

Transcript Alleles

HGVS Amino-acid Change
ENST00000227665.9:c.579_582del MANE Select ENSP00000227665.4:p.Tyr194ProfsTer5
ENST00000433069.2:c.579_582del ENSP00000399701.2:p.Tyr194ProfsTer5
ENST00000673688.1:c.663_666del ENSP00000501141.1:p.Tyr222ProfsTer5
ENST00000227665.8:c.579_582del ENSP00000227665.4:p.Tyr194ProfsTer5
ENST00000542499.5:c.579_582del ENSP00000445002.1:p.Tyr194ProfsTer5
NM_001166598.1:c.579_582del NP_001160070.1:p.Tyr194ProfsTer5
NM_052968.4:c.579_582del NP_443200.2:p.Tyr194ProfsTer5
NM_001166598.2:c.579_582del NP_001160070.1:p.Tyr194ProfsTer5
NM_001371904.1:c.579_582del MANE Select NP_001358833.1:p.Tyr194ProfsTer5
NM_052968.5:c.579_582del NP_443200.2:p.Tyr194ProfsTer5