Canonical Allele Identifier: CA2616086257

Gene: APOA5

Linked Data

• gnomAD v4: 11-116790622-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116790623del , CM000673.2:g.116790623del	GRCh38
NC_000011.9:g.116661339del , CM000673.1:g.116661339del	GRCh37
NC_000011.8:g.116166549del	NCBI36
NG_015894.1:g.6798del
NG_015894.2:g.6798del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227665.9:c.606del MANE Select	ENSP00000227665.4:p.Ile202MetfsTer?
ENST00000433069.2:c.606del	ENSP00000399701.2:p.Ile202MetfsTer?
ENST00000673688.1:c.690del	ENSP00000501141.1:p.Ile230MetfsTer?
ENST00000227665.8:c.606del	ENSP00000227665.4:p.Ile202MetfsTer?
ENST00000542499.5:c.606del	ENSP00000445002.1:p.Ile202MetfsTer?
NM_001166598.1:c.606del	NP_001160070.1:p.Ile202MetfsTer?
NM_052968.4:c.606del	NP_443200.2:p.Ile202MetfsTer?
NM_001166598.2:c.606del	NP_001160070.1:p.Ile202MetfsTer?
NM_001371904.1:c.606del MANE Select	NP_001358833.1:p.Ile202MetfsTer?
NM_052968.5:c.606del	NP_443200.2:p.Ile202MetfsTer?