Canonical Allele Identifier: CA2588340283

Gene: PKP1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317486_201317487delinsGA , CM000663.2:g.201317486_201317487delinsGA	GRCh38
NC_000001.10:g.201286614_201286615delinsGA , CM000663.1:g.201286614_201286615delinsGA	GRCh37
NC_000001.9:g.199553237_199553238delinsGA	NCBI36
NG_023337.1:g.39035_39036delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367324.8:c.847-86_847-85delinsGA MANE Select	ENSP00000356293.4:n.847-86_847-85delinsGA
ENST00000263946.7:c.847-86_847-85delinsGA	ENSP00000263946.3:n.847-86_847-85delinsGA
ENST00000352845.3:c.847-86_847-85delinsGA	ENSP00000295597.3:n.847-86_847-85delinsGA
ENST00000367324.7:c.847-86_847-85delinsGA	ENSP00000356293.3:n.847-86_847-85delinsGA
ENST00000475988.1:n.189-86_189-85delinsGA
ENST00000622031.4:c.844-86_844-85delinsGA	ENSP00000482213.1:n.844-86_844-85delinsGA
NM_000299.3:c.847-86_847-85delinsGA	NP_000290.2:n.847-86_847-85delinsGA
NM_001005337.2:c.847-86_847-85delinsGA	NP_001005337.1:n.847-86_847-85delinsGA
NM_001005337.3:c.847-86_847-85delinsGA MANE Select	NP_001005337.1:n.847-86_847-85delinsGA
NM_000299.4:c.847-86_847-85delinsGA	NP_000290.2:n.847-86_847-85delinsGA