Canonical Allele Identifier: CA2645836942
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55039825-TC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039829del , CM000663.2:g.55039829del GRCh38
NC_000001.10:g.55505502del , CM000663.1:g.55505502del GRCh37
NC_000001.9:g.55278090del NCBI36
NG_009061.1:g.5283del , LRG_275:g.5283del

Transcript Alleles

HGVS Amino-acid Change
ENST00000673913.2:c.-9del ENSP00000501161.2:n.-9del
ENST00000710286.1:c.349del ENSP00000518176.1:p.Leu117TrpfsTer?
ENST00000673726.1:c.-9del ENSP00000501004.1:n.-9del
ENST00000302118.5:c.-9del MANE Select ENSP00000303208.5:n.-9del
NM_174936.3:c.-9del , LRG_275t1:c.-9del NP_777596.2:n.-9del
NM_174936.4:c.-9del MANE Select NP_777596.2:n.-9del
Search 100 bp 5'
Search 100 bp 3'