Canonical Allele Identifier: CA1219691239

Gene: PKP1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317574_201317575delinsCT , CM000663.2:g.201317574_201317575delinsCT	GRCh38
NC_000001.10:g.201286702_201286703delinsCT , CM000663.1:g.201286702_201286703delinsCT	GRCh37
NC_000001.9:g.199553325_199553326delinsCT	NCBI36
NG_023337.1:g.39123_39124delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367324.8:c.849_850delinsCT MANE Select	ENSP00000356293.4:p.Val283=
ENST00000263946.7:c.849_850delinsCT	ENSP00000263946.3:p.Val283=
ENST00000352845.3:c.849_850delinsCT	ENSP00000295597.3:p.Val283=
ENST00000367324.7:c.849_850delinsCT	ENSP00000356293.3:p.Val283=
ENST00000475988.1:n.191_192delinsCT
ENST00000622031.4:c.846_847delinsCT	ENSP00000482213.1:p.Val282=
NM_000299.3:c.849_850delinsCT	NP_000290.2:p.Val283=
NM_001005337.2:c.849_850delinsCT	NP_001005337.1:p.Val283=
NM_001005337.3:c.849_850delinsCT MANE Select	NP_001005337.1:p.Val283=
NM_000299.4:c.849_850delinsCT	NP_000290.2:p.Val283=