Canonical Allele Identifier: CA1167976396
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039876_55039879delinsGCCA , CM000663.2:g.55039876_55039879delinsGCCA GRCh38
NC_000001.10:g.55505549_55505552delinsGCCA , CM000663.1:g.55505549_55505552delinsGCCA GRCh37
NC_000001.9:g.55278137_55278140delinsGCCA NCBI36
NG_009061.1:g.5330_5333delinsGCCA , LRG_275:g.5330_5333delinsGCCA

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.39_42delinsGCCA ENSP00000501161.2:p.Leu13=
ENST00000710286.1:c.396_399delinsGCCA ENSP00000518176.1:p.Leu132=
ENST00000673726.1:c.39_42delinsGCCA ENSP00000501004.1:p.Leu13=
ENST00000302118.5:c.39_42delinsGCCA MANE Select ENSP00000303208.5:p.Leu13=
NM_174936.3:c.39_42delinsGCCA , LRG_275t1:c.39_42delinsGCCA NP_777596.2:p.Leu13=
NM_174936.4:c.39_42delinsGCCA MANE Select NP_777596.2:p.Leu13=