Canonical Allele Identifier: CA2582342475

Gene: APOA5

Linked Data

• ClinVar Variation Id: 2587094
• ClinVar RCV Id: RCV003339157

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116790628_116790651del , CM000673.2:g.116790628_116790651del	GRCh38
NC_000011.9:g.116661344_116661367del , CM000673.1:g.116661344_116661367del	GRCh37
NC_000011.8:g.116166554_116166577del	NCBI36
NG_015894.1:g.6770_6793del
NG_015894.2:g.6770_6793del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227665.9:c.578_601del MANE Select	ENSP00000227665.4:p.Pro193_Gly201delinsArg
ENST00000433069.2:c.578_601del	ENSP00000399701.2:p.Pro193_Gly201delinsArg
ENST00000673688.1:c.662_685del	ENSP00000501141.1:p.Pro221_Gly229delinsArg
ENST00000227665.8:c.578_601del	ENSP00000227665.4:p.Pro193_Gly201delinsArg
ENST00000542499.5:c.578_601del	ENSP00000445002.1:p.Pro193_Gly201delinsArg
NM_001166598.1:c.578_601del	NP_001160070.1:p.Pro193_Gly201delinsArg
NM_052968.4:c.578_601del	NP_443200.2:p.Pro193_Gly201delinsArg
NM_001166598.2:c.578_601del	NP_001160070.1:p.Pro193_Gly201delinsArg
NM_001371904.1:c.578_601del MANE Select	NP_001358833.1:p.Pro193_Gly201delinsArg
NM_052968.5:c.578_601del	NP_443200.2:p.Pro193_Gly201delinsArg