Canonical Allele Identifier: CA645517246
Gene: PCSK9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039880_55039881insCTG , CM000663.2:g.55039880_55039881insCTG GRCh38
NC_000001.10:g.55505553_55505554insCTG , CM000663.1:g.55505553_55505554insCTG GRCh37
NC_000001.9:g.55278141_55278142insCTG NCBI36
NG_009061.1:g.5334_5335insCTG , LRG_275:g.5334_5335insCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.43_44insCTG ENSP00000501161.2:p.Leu15delinsProVal
ENST00000710286.1:c.400_401insCTG ENSP00000518176.1:p.Leu134delinsProVal
ENST00000673726.1:c.43_44insCTG ENSP00000501004.1:p.Leu15delinsProVal
ENST00000302118.5:c.43_44insCTG MANE Select ENSP00000303208.5:p.Leu15delinsProVal
NM_174936.3:c.43_44insCTG , LRG_275t1:c.43_44insCTG NP_777596.2:p.Leu15delinsProVal
NM_174936.4:c.43_44insCTG MANE Select NP_777596.2:p.Leu15delinsProVal