Canonical Allele Identifier: CA2578366382
Gene: PCSK1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96429224del , CM000667.2:g.96429224del GRCh38
NC_000005.9:g.95764928del , CM000667.1:g.95764928del GRCh37
NC_000005.8:g.95790684del NCBI36
NG_021161.1:g.9058del

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.274del MANE Select ENSP00000308024.2:p.Asp92MetfsTer5
ENST00000311106.7:c.274del ENSP00000308024.2:p.Asp92MetfsTer5
ENST00000508626.5:c.133del ENSP00000421600.1:p.Asp45MetfsTer5
ENST00000509190.1:c.274del ENSP00000427294.1:p.Asp92MetfsTer5
NM_000439.4:c.274del NP_000430.3:p.Asp92MetfsTer5
NM_001177875.1:c.133del NP_001171346.1:p.Asp45MetfsTer5
NR_130776.1:n.354+49572del
NM_000439.5:c.274del MANE Select NP_000430.3:p.Asp92MetfsTer5
NM_001177875.2:c.133del NP_001171346.1:p.Asp45MetfsTer5
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