Canonical Allele Identifier: CA2695215433
Gene: APOA5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116790624_116790637del , CM000673.2:g.116790624_116790637del GRCh38
NC_000011.9:g.116661340_116661353del , CM000673.1:g.116661340_116661353del GRCh37
NC_000011.8:g.116166550_116166563del NCBI36
NG_015894.1:g.6785_6798del
NG_015894.2:g.6785_6798del

Transcript Alleles

HGVS Amino-acid Change
ENST00000227665.9:c.593_606del MANE Select ENSP00000227665.4:p.Leu198ArgfsTer?
ENST00000433069.2:c.593_606del ENSP00000399701.2:p.Leu198ArgfsTer?
ENST00000673688.1:c.677_690del ENSP00000501141.1:p.Leu226ArgfsTer?
ENST00000227665.8:c.593_606del ENSP00000227665.4:p.Leu198ArgfsTer?
ENST00000542499.5:c.593_606del ENSP00000445002.1:p.Leu198ArgfsTer?
NM_001166598.1:c.593_606del NP_001160070.1:p.Leu198ArgfsTer?
NM_052968.4:c.593_606del NP_443200.2:p.Leu198ArgfsTer?
NM_001166598.2:c.593_606del NP_001160070.1:p.Leu198ArgfsTer?
NM_001371904.1:c.593_606del MANE Select NP_001358833.1:p.Leu198ArgfsTer?
NM_052968.5:c.593_606del NP_443200.2:p.Leu198ArgfsTer?