Canonical Allele Identifier: CA1167976265

Gene: PCSK9

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55039610_55039619delinsGGAGGAGTGA , CM000663.2:g.55039610_55039619delinsGGAGGAGTGA	GRCh38
NC_000001.10:g.55505283_55505292delinsGGAGGAGTGA , CM000663.1:g.55505283_55505292delinsGGAGGAGTGA	GRCh37
NC_000001.9:g.55277871_55277880delinsGGAGGAGTGA	NCBI36
NG_009061.1:g.5064_5073delinsGGAGGAGTGA , LRG_275:g.5064_5073delinsGGAGGAGTGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.-228_-219delinsGGAGGAGTGA	ENSP00000501161.2:n.-228_-219delinsGGAGGAGTGA
ENST00000710286.1:c.130_139delinsGGAGGAGTGA	ENSP00000518176.1:p.Gly44=
ENST00000673726.1:c.-228_-219delinsGGAGGAGTGA	ENSP00000501004.1:n.-228_-219delinsGGAGGAGTGA
ENST00000302118.5:c.-228_-219delinsGGAGGAGTGA MANE Select	ENSP00000303208.5:n.-228_-219delinsGGAGGAGTGA
NM_174936.3:c.-228_-219delinsGGAGGAGTGA , LRG_275t1:c.-228_-219delinsGGAGGAGTGA	NP_777596.2:n.-228_-219delinsGGAGGAGTGA
NM_174936.4:c.-228_-219delinsGGAGGAGTGA MANE Select	NP_777596.2:n.-228_-219delinsGGAGGAGTGA