Canonical Allele Identifier: CA2697558959
Gene: APOA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2697497
ClinVar RCV Id: RCV003549306

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116790720_116790725del , CM000673.2:g.116790720_116790725del GRCh38
NC_000011.9:g.116661436_116661441del , CM000673.1:g.116661436_116661441del GRCh37
NC_000011.8:g.116166646_116166651del NCBI36
NG_015894.1:g.6701_6706del
NG_015894.2:g.6701_6706del

Transcript Alleles

HGVS Amino-acid Change
ENST00000227665.9:c.509_514del MANE Select ENSP00000227665.4:p.Trp170_Ala171del
ENST00000433069.2:c.509_514del ENSP00000399701.2:p.Trp170_Ala171del
ENST00000673688.1:c.593_598del ENSP00000501141.1:p.Trp198_Ala199del
ENST00000227665.8:c.509_514del ENSP00000227665.4:p.Trp170_Ala171del
ENST00000542499.5:c.509_514del ENSP00000445002.1:p.Trp170_Ala171del
NM_001166598.1:c.509_514del NP_001160070.1:p.Trp170_Ala171del
NM_052968.4:c.509_514del NP_443200.2:p.Trp170_Ala171del
NM_001166598.2:c.509_514del NP_001160070.1:p.Trp170_Ala171del
NM_001371904.1:c.509_514del MANE Select NP_001358833.1:p.Trp170_Ala171del
NM_052968.5:c.509_514del NP_443200.2:p.Trp170_Ala171del