Canonical Allele Identifier: CA2645836934
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55039822-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039823del , CM000663.2:g.55039823del GRCh38
NC_000001.10:g.55505496del , CM000663.1:g.55505496del GRCh37
NC_000001.9:g.55278084del NCBI36
NG_009061.1:g.5277del , LRG_275:g.5277del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.-15del ENSP00000501161.2:n.-15del
ENST00000710286.1:c.343del ENSP00000518176.1:p.Ser115LeufsTer?
ENST00000673726.1:c.-15del ENSP00000501004.1:n.-15del
ENST00000302118.5:c.-15del MANE Select ENSP00000303208.5:n.-15del
NM_174936.3:c.-15del , LRG_275t1:c.-15del NP_777596.2:n.-15del
NM_174936.4:c.-15del MANE Select NP_777596.2:n.-15del
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