Canonical Allele Identifier: CA2573977935
Gene: PKP1 HGNC NCBI

Linked Data

gnomAD v4: 1-201317838-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201317842del , CM000663.2:g.201317842del GRCh38
NC_000001.10:g.201286970del , CM000663.1:g.201286970del GRCh37
NC_000001.9:g.199553593del NCBI36
NG_023337.1:g.39391del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367324.8:c.1054+63del MANE Select ENSP00000356293.4:n.1054+63del
ENST00000263946.7:c.1054+63del ENSP00000263946.3:n.1054+63del
ENST00000352845.3:c.1054+63del ENSP00000295597.3:n.1054+63del
ENST00000367324.7:c.1054+63del ENSP00000356293.3:n.1054+63del
ENST00000475988.1:n.396+63del
ENST00000622031.4:c.1051+63del ENSP00000482213.1:n.1051+63del
NM_000299.3:c.1054+63del NP_000290.2:n.1054+63del
NM_001005337.2:c.1054+63del NP_001005337.1:n.1054+63del
NM_001005337.3:c.1054+63del MANE Select NP_001005337.1:n.1054+63del
NM_000299.4:c.1054+63del NP_000290.2:n.1054+63del
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