Canonical Allele Identifier: CA1167976193
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039505_55039517delinsCGCGCCCCAGGCG , CM000663.2:g.55039505_55039517delinsCGCGCCCCAGGCG GRCh38
NC_000001.10:g.55505178_55505190delinsCGCGCCCCAGGCG , CM000663.1:g.55505178_55505190delinsCGCGCCCCAGGCG GRCh37
NC_000001.9:g.55277766_55277778delinsCGCGCCCCAGGCG NCBI36
NG_009061.1:g.4959_4971delinsCGCGCCCCAGGCG , LRG_275:g.4959_4971delinsCGCGCCCCAGGCG

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.-333_-321delinsCGCGCCCCAGGCG ENSP00000501161.2:n.-333_-321delinsCGCGCCCCAGGCG
ENST00000710286.1:c.25_37delinsCGCGCCCCAGGCG ENSP00000518176.1:p.Arg9=
ENST00000673726.1:c.-333_-321delinsCGCGCCCCAGGCG ENSP00000501004.1:n.-333_-321delinsCGCGCCCCAGGCG
NM_174936.3:c.-333_-321delinsCGCGCCCCAGGCG , LRG_275t1:c.-333_-321delinsCGCGCCCCAGGCG NP_777596.2:n.-333_-321delinsCGCGCCCCAGGCG