Canonical Allele Identifier: CA2573977570
Gene: PKP1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201317552_201317553del , CM000663.2:g.201317552_201317553del GRCh38
NC_000001.10:g.201286680_201286681del , CM000663.1:g.201286680_201286681del GRCh37
NC_000001.9:g.199553303_199553304del NCBI36
NG_023337.1:g.39101_39102del

Transcript Alleles

HGVS Amino-acid change
ENST00000367324.8:c.847-20_847-19del MANE Select ENSP00000356293.4:n.847-20_847-19del
ENST00000263946.7:c.847-20_847-19del ENSP00000263946.3:n.847-20_847-19del
ENST00000352845.3:c.847-20_847-19del ENSP00000295597.3:n.847-20_847-19del
ENST00000367324.7:c.847-20_847-19del ENSP00000356293.3:n.847-20_847-19del
ENST00000475988.1:n.189-20_189-19del
ENST00000622031.4:c.844-20_844-19del ENSP00000482213.1:n.844-20_844-19del
NM_000299.3:c.847-20_847-19del NP_000290.2:n.847-20_847-19del
NM_001005337.2:c.847-20_847-19del NP_001005337.1:n.847-20_847-19del
NM_001005337.3:c.847-20_847-19del MANE Select NP_001005337.1:n.847-20_847-19del
NM_000299.4:c.847-20_847-19del NP_000290.2:n.847-20_847-19del
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