Canonical Allele Identifier: CA1139662343

Gene: APOA5

Linked Data

• ClinVar Variation Id: 995944
• ClinVar RCV Id: RCV001290185
• dbSNP Id: rs1940989106

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116790639_116790652del , CM000673.2:g.116790639_116790652del	GRCh38
NC_000011.9:g.116661355_116661368del , CM000673.1:g.116661355_116661368del	GRCh37
NC_000011.8:g.116166565_116166578del	NCBI36
NG_015894.1:g.6771_6784del
NG_015894.2:g.6771_6784del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227665.9:c.579_592del MANE Select	ENSP00000227665.4:p.Tyr194GlyfsTer?
ENST00000433069.2:c.579_592del	ENSP00000399701.2:p.Tyr194GlyfsTer?
ENST00000673688.1:c.663_676del	ENSP00000501141.1:p.Tyr222GlyfsTer?
ENST00000227665.8:c.579_592del	ENSP00000227665.4:p.Tyr194GlyfsTer?
ENST00000542499.5:c.579_592del	ENSP00000445002.1:p.Tyr194GlyfsTer?
NM_001166598.1:c.579_592del	NP_001160070.1:p.Tyr194GlyfsTer?
NM_052968.4:c.579_592del	NP_443200.2:p.Tyr194GlyfsTer?
NM_001166598.2:c.579_592del	NP_001160070.1:p.Tyr194GlyfsTer?
NM_001371904.1:c.579_592del MANE Select	NP_001358833.1:p.Tyr194GlyfsTer?
NM_052968.5:c.579_592del	NP_443200.2:p.Tyr194GlyfsTer?