Canonical Allele Identifier: CA2002741841
Community Standard Title: NM_001371904.1(APOA5):c.117_120del (p.Arg40TrpfsTer16)
Gene: APOA5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116791630_116791633del , CM000673.2:g.116791630_116791633del GRCh38
NC_000011.9:g.116662346_116662349del , CM000673.1:g.116662346_116662349del GRCh37
NC_000011.8:g.116167556_116167559del NCBI36
NG_015894.1:g.5791_5794del
NG_015894.2:g.5791_5794del

Transcript Alleles

HGVS Amino-acid Change
NM_001371904.1:c.117_120del MANE Select NP_001358833.1:p.Arg40TrpfsTer16
ENST00000227665.9:c.117_120del MANE Select ENSP00000227665.4:p.Arg40TrpfsTer16
NM_001166598.1:c.117_120del NP_001160070.1:p.Arg40TrpfsTer16
NM_001166598.2:c.117_120del NP_001160070.1:p.Arg40TrpfsTer16
NM_052968.4:c.117_120del NP_443200.2:p.Arg40TrpfsTer16
NM_052968.5:c.117_120del NP_443200.2:p.Arg40TrpfsTer16
ENST00000227665.8:c.117_120del ENSP00000227665.4:p.Arg40TrpfsTer16
ENST00000433069.1:c.117_120del ENSP00000399701.1:p.Arg40TrpfsTer16
ENST00000433069.2:c.117_120del ENSP00000399701.2:p.Arg40TrpfsTer16
ENST00000542499.5:c.117_120del ENSP00000445002.1:p.Arg40TrpfsTer16
ENST00000673688.1:c.117_120del ENSP00000501141.1:p.Arg40TrpfsTer26