Canonical Allele Identifier: CA1167976214
Gene: PCSK9 HGNC NCBI

Linked Data

dbSNP Id: rs1644581070
gnomAD v4: 1-55039530-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039533del , CM000663.2:g.55039533del GRCh38
NC_000001.10:g.55505206del , CM000663.1:g.55505206del GRCh37
NC_000001.9:g.55277794del NCBI36
NG_009061.1:g.4987del , LRG_275:g.4987del

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.-305del ENSP00000501161.2:n.-305del
ENST00000710286.1:c.53del ENSP00000518176.1:p.Pro18LeufsTer29
ENST00000673726.1:c.-305del ENSP00000501004.1:n.-305del
NM_174936.3:c.-305del , LRG_275t1:c.-305del NP_777596.2:n.-305del
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