Canonical Allele Identifier: CA2574381077
Gene: PCSK9 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.55039818del , CM000663.2:g.55039818del GRCh38
NC_000001.10:g.55505491del , CM000663.1:g.55505491del GRCh37
NC_000001.9:g.55278079del NCBI36
NG_009061.1:g.5272del , LRG_275:g.5272del

Transcript Alleles

HGVS Amino-acid change
ENST00000673913.2:c.-20del ENSP00000501161.2:n.-20del
ENST00000710286.1:c.338del ENSP00000518176.1:p.Ala113GlufsTer?
ENST00000673726.1:c.-20del ENSP00000501004.1:n.-20del
ENST00000302118.5:c.-20del MANE Select ENSP00000303208.5:n.-20del
NM_174936.3:c.-20del , LRG_275t1:c.-20del NP_777596.2:n.-20del
NM_174936.4:c.-20del MANE Select NP_777596.2:n.-20del
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