Canonical Allele Identifier: CA2743685338
Gene: PCSK9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039949del , CM000663.2:g.55039949del GRCh38
NC_000001.10:g.55505622del , CM000663.1:g.55505622del GRCh37
NC_000001.9:g.55278210del NCBI36
NG_009061.1:g.5403del , LRG_275:g.5403del

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.112del ENSP00000501161.2:p.Tyr38ThrfsTer6
ENST00000710286.1:c.469del ENSP00000518176.1:p.Tyr157ThrfsTer6
ENST00000673726.1:c.112del ENSP00000501004.1:p.Tyr38ThrfsTer6
ENST00000302118.5:c.112del MANE Select ENSP00000303208.5:p.Tyr38ThrfsTer6
NM_174936.3:c.112del , LRG_275t1:c.112del NP_777596.2:p.Tyr38ThrfsTer6
NM_174936.4:c.112del MANE Select NP_777596.2:p.Tyr38ThrfsTer6
Search 100 bp 5'
Search 100 bp 3'