Canonical Allele Identifier: CA1219691378

Gene: PKP1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317888_201317890delinsCTG , CM000663.2:g.201317888_201317890delinsCTG	GRCh38
NC_000001.10:g.201287016_201287018delinsCTG , CM000663.1:g.201287016_201287018delinsCTG	GRCh37
NC_000001.9:g.199553639_199553641delinsCTG	NCBI36
NG_023337.1:g.39437_39439delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367324.8:c.1054+109_1054+111delinsCTG MANE Select	ENSP00000356293.4:n.1054+109_1054+111delinsCTG
ENST00000263946.7:c.1054+109_1054+111delinsCTG	ENSP00000263946.3:n.1054+109_1054+111delinsCTG
ENST00000352845.3:c.1054+109_1054+111delinsCTG	ENSP00000295597.3:n.1054+109_1054+111delinsCTG
ENST00000367324.7:c.1054+109_1054+111delinsCTG	ENSP00000356293.3:n.1054+109_1054+111delinsCTG
ENST00000475988.1:n.396+109_396+111delinsCTG
ENST00000622031.4:c.1051+109_1051+111delinsCTG	ENSP00000482213.1:n.1051+109_1051+111delinsCTG
NM_000299.3:c.1054+109_1054+111delinsCTG	NP_000290.2:n.1054+109_1054+111delinsCTG
NM_001005337.2:c.1054+109_1054+111delinsCTG	NP_001005337.1:n.1054+109_1054+111delinsCTG
NM_001005337.3:c.1054+109_1054+111delinsCTG MANE Select	NP_001005337.1:n.1054+109_1054+111delinsCTG
NM_000299.4:c.1054+109_1054+111delinsCTG	NP_000290.2:n.1054+109_1054+111delinsCTG