Canonical Allele Identifier: CA2586966666
Gene: PCSK9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039902_55039903insG , CM000663.2:g.55039902_55039903insG GRCh38
NC_000001.10:g.55505575_55505576insG , CM000663.1:g.55505575_55505576insG GRCh37
NC_000001.9:g.55278163_55278164insG NCBI36
NG_009061.1:g.5356_5357insG , LRG_275:g.5356_5357insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.65_66insG ENSP00000501161.2:p.Leu23ProfsTer?
ENST00000710286.1:c.422_423insG ENSP00000518176.1:p.Leu142ProfsTer?
ENST00000673726.1:c.65_66insG ENSP00000501004.1:p.Leu23ProfsTer?
ENST00000302118.5:c.65_66insG MANE Select ENSP00000303208.5:p.Leu23ProfsTer?
NM_174936.3:c.65_66insG , LRG_275t1:c.65_66insG NP_777596.2:p.Leu23ProfsTer?
NM_174936.4:c.65_66insG MANE Select NP_777596.2:p.Leu23ProfsTer?