Canonical Allele Identifier: CA2645836287
Gene: PCSK9 HGNC NCBI

Linked Data

gnomAD v4: 1-55039614-GAGTGAGCCAGGC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039621_55039632del , CM000663.2:g.55039621_55039632del GRCh38
NC_000001.10:g.55505294_55505305del , CM000663.1:g.55505294_55505305del GRCh37
NC_000001.9:g.55277882_55277893del NCBI36
NG_009061.1:g.5075_5086del , LRG_275:g.5075_5086del

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.-217_-206del ENSP00000501161.2:n.-217_-206del
ENST00000710286.1:c.141_152del ENSP00000518176.1:p.Ser47_Val50del
ENST00000673726.1:c.-217_-206del ENSP00000501004.1:n.-217_-206del
ENST00000302118.5:c.-217_-206del MANE Select ENSP00000303208.5:n.-217_-206del
NM_174936.3:c.-217_-206del , LRG_275t1:c.-217_-206del NP_777596.2:n.-217_-206del
NM_174936.4:c.-217_-206del MANE Select NP_777596.2:n.-217_-206del
Search 100 bp 5'
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