Canonical Allele Identifier: CA2695204706
Gene: PCSK1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96416066del , CM000667.2:g.96416066del GRCh38
NC_000005.9:g.95751770del , CM000667.1:g.95751770del GRCh37
NC_000005.8:g.95777526del NCBI36
NG_021161.1:g.22219del

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.679del MANE Select ENSP00000308024.2:p.Val227LeufsTer12
ENST00000311106.7:c.679del ENSP00000308024.2:p.Val227LeufsTer12
ENST00000508626.5:c.538del ENSP00000421600.1:p.Val180LeufsTer12
NM_000439.4:c.679del NP_000430.3:p.Val227LeufsTer12
NM_001177875.1:c.538del NP_001171346.1:p.Val180LeufsTer12
NR_130776.1:n.354+36414del
NM_000439.5:c.679del MANE Select NP_000430.3:p.Val227LeufsTer12
NM_001177875.2:c.538del NP_001171346.1:p.Val180LeufsTer12
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