Canonical Allele Identifier: CA1167976266

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55039611_55039617delinsGAGGAGT , CM000663.2:g.55039611_55039617delinsGAGGAGT	GRCh38
NC_000001.10:g.55505284_55505290delinsGAGGAGT , CM000663.1:g.55505284_55505290delinsGAGGAGT	GRCh37
NC_000001.9:g.55277872_55277878delinsGAGGAGT	NCBI36
NG_009061.1:g.5065_5071delinsGAGGAGT , LRG_275:g.5065_5071delinsGAGGAGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.-227_-221delinsGAGGAGT	ENSP00000501161.2:n.-227_-221delinsGAGGAGT
ENST00000710286.1:c.131_137delinsGAGGAGT	ENSP00000518176.1:p.Gly44=
ENST00000673726.1:c.-227_-221delinsGAGGAGT	ENSP00000501004.1:n.-227_-221delinsGAGGAGT
ENST00000302118.5:c.-227_-221delinsGAGGAGT MANE Select	ENSP00000303208.5:n.-227_-221delinsGAGGAGT
NM_174936.3:c.-227_-221delinsGAGGAGT , LRG_275t1:c.-227_-221delinsGAGGAGT	NP_777596.2:n.-227_-221delinsGAGGAGT
NM_174936.4:c.-227_-221delinsGAGGAGT MANE Select	NP_777596.2:n.-227_-221delinsGAGGAGT