Canonical Allele Identifier: CA1148406183

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55039931_55039943delinsGAGGACGAGGACG , CM000663.2:g.55039931_55039943delinsGAGGACGAGGACG	GRCh38
NC_000001.10:g.55505604_55505616delinsGAGGACGAGGACG , CM000663.1:g.55505604_55505616delinsGAGGACGAGGACG	GRCh37
NC_000001.9:g.55278192_55278204delinsGAGGACGAGGACG	NCBI36
NG_009061.1:g.5385_5397delinsGAGGACGAGGACG , LRG_275:g.5385_5397delinsGAGGACGAGGACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673913.2:c.94_106delinsGAGGACGAGGACG	ENSP00000501161.2:p.Glu32=
ENST00000710286.1:c.451_463delinsGAGGACGAGGACG	ENSP00000518176.1:p.Glu151=
ENST00000673726.1:c.94_106delinsGAGGACGAGGACG	ENSP00000501004.1:p.Glu32=
ENST00000302118.5:c.94_106delinsGAGGACGAGGACG MANE Select	ENSP00000303208.5:p.Glu32=
NM_174936.3:c.94_106delinsGAGGACGAGGACG , LRG_275t1:c.94_106delinsGAGGACGAGGACG	NP_777596.2:p.Glu32=
NM_174936.4:c.94_106delinsGAGGACGAGGACG MANE Select	NP_777596.2:p.Glu32=