Canonical Allele Identifier: CA2645836024
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55039534-TAGA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039537_55039539del , CM000663.2:g.55039537_55039539del GRCh38
NC_000001.10:g.55505210_55505212del , CM000663.1:g.55505210_55505212del GRCh37
NC_000001.9:g.55277798_55277800del NCBI36
NG_009061.1:g.4991_4993del , LRG_275:g.4991_4993del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.-301_-299del ENSP00000501161.2:n.-301_-299del
ENST00000710286.1:c.57_59del ENSP00000518176.1:p.Arg20del
ENST00000673726.1:c.-301_-299del ENSP00000501004.1:n.-301_-299del
NM_174936.3:c.-301_-299del , LRG_275t1:c.-301_-299del NP_777596.2:n.-301_-299del
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