Canonical Allele Identifier: CA1219691207

Gene: PKP1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317485_201317486delinsTG , CM000663.2:g.201317485_201317486delinsTG	GRCh38
NC_000001.10:g.201286613_201286614delinsTG , CM000663.1:g.201286613_201286614delinsTG	GRCh37
NC_000001.9:g.199553236_199553237delinsTG	NCBI36
NG_023337.1:g.39034_39035delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367324.8:c.847-87_847-86delinsTG MANE Select	ENSP00000356293.4:n.847-87_847-86delinsTG
ENST00000263946.7:c.847-87_847-86delinsTG	ENSP00000263946.3:n.847-87_847-86delinsTG
ENST00000352845.3:c.847-87_847-86delinsTG	ENSP00000295597.3:n.847-87_847-86delinsTG
ENST00000367324.7:c.847-87_847-86delinsTG	ENSP00000356293.3:n.847-87_847-86delinsTG
ENST00000475988.1:n.189-87_189-86delinsTG
ENST00000622031.4:c.844-87_844-86delinsTG	ENSP00000482213.1:n.844-87_844-86delinsTG
NM_000299.3:c.847-87_847-86delinsTG	NP_000290.2:n.847-87_847-86delinsTG
NM_001005337.2:c.847-87_847-86delinsTG	NP_001005337.1:n.847-87_847-86delinsTG
NM_001005337.3:c.847-87_847-86delinsTG MANE Select	NP_001005337.1:n.847-87_847-86delinsTG
NM_000299.4:c.847-87_847-86delinsTG	NP_000290.2:n.847-87_847-86delinsTG