Canonical Allele Identifier: CA1167976399
Gene: PCSK9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039878_55039881delinsCACT , CM000663.2:g.55039878_55039881delinsCACT GRCh38
NC_000001.10:g.55505551_55505554delinsCACT , CM000663.1:g.55505551_55505554delinsCACT GRCh37
NC_000001.9:g.55278139_55278142delinsCACT NCBI36
NG_009061.1:g.5332_5335delinsCACT , LRG_275:g.5332_5335delinsCACT

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.41_44delinsCACT ENSP00000501161.2:p.Pro14=
ENST00000710286.1:c.398_401delinsCACT ENSP00000518176.1:p.Pro133=
ENST00000673726.1:c.41_44delinsCACT ENSP00000501004.1:p.Pro14=
ENST00000302118.5:c.41_44delinsCACT MANE Select ENSP00000303208.5:p.Pro14=
NM_174936.3:c.41_44delinsCACT , LRG_275t1:c.41_44delinsCACT NP_777596.2:p.Pro14=
NM_174936.4:c.41_44delinsCACT MANE Select NP_777596.2:p.Pro14=
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