Canonical Allele Identifier: CA2002740764
Gene: APOA5 HGNC NCBI

Linked Data

dbSNP Id: rs1940991230
gnomAD v4: 11-116790684-T-TGCACC
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116790685_116790689dup , CM000673.2:g.116790685_116790689dup GRCh38
NC_000011.9:g.116661401_116661405dup , CM000673.1:g.116661401_116661405dup GRCh37
NC_000011.8:g.116166611_116166615dup NCBI36
NG_015894.1:g.6732_6736dup
NG_015894.2:g.6732_6736dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000227665.9:c.540_544dup MANE Select ENSP00000227665.4:p.His182ArgfsTer20
ENST00000433069.2:c.540_544dup ENSP00000399701.2:p.His182ArgfsTer20
ENST00000673688.1:c.624_628dup ENSP00000501141.1:p.His210ArgfsTer20
ENST00000227665.8:c.540_544dup ENSP00000227665.4:p.His182ArgfsTer20
ENST00000542499.5:c.540_544dup ENSP00000445002.1:p.His182ArgfsTer20
NM_001166598.1:c.540_544dup NP_001160070.1:p.His182ArgfsTer20
NM_052968.4:c.540_544dup NP_443200.2:p.His182ArgfsTer20
NM_001166598.2:c.540_544dup NP_001160070.1:p.His182ArgfsTer20
NM_001371904.1:c.540_544dup MANE Select NP_001358833.1:p.His182ArgfsTer20
NM_052968.5:c.540_544dup NP_443200.2:p.His182ArgfsTer20
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