Canonical Allele Identifier: CA2574381113
Gene: PCSK9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55044050del , CM000663.2:g.55044050del GRCh38
NC_000001.10:g.55509723del , CM000663.1:g.55509723del GRCh37
NC_000001.9:g.55282311del NCBI36
NG_009061.1:g.9504del , LRG_275:g.9504del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.399+16del ENSP00000501161.2:n.399+16del
ENST00000710286.1:c.756+16del ENSP00000518176.1:n.756+16del
ENST00000673662.1:n.69+16del
ENST00000673726.1:c.399+16del ENSP00000501004.1:n.399+16del
ENST00000673903.1:c.24+16del ENSP00000501257.1:n.24+16del
ENST00000302118.5:c.399+16del MANE Select ENSP00000303208.5:n.399+16del
NM_174936.3:c.399+16del , LRG_275t1:c.399+16del NP_777596.2:n.399+16del
NR_110451.1:n.182+3647del
NM_174936.4:c.399+16del MANE Select NP_777596.2:n.399+16del
NR_110451.2:n.182+3647del