Canonical Allele Identifier: CA1219691240

Gene: PKP1

Linked Data

• dbSNP Id: rs1656794115

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317575del , CM000663.2:g.201317575del	GRCh38
NC_000001.10:g.201286703del , CM000663.1:g.201286703del	GRCh37
NC_000001.9:g.199553326del	NCBI36
NG_023337.1:g.39124del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367324.8:c.850del MANE Select	ENSP00000356293.4:p.Tyr284IlefsTer?
ENST00000263946.7:c.850del	ENSP00000263946.3:p.Tyr284IlefsTer?
ENST00000352845.3:c.850del	ENSP00000295597.3:p.Tyr284IlefsTer?
ENST00000367324.7:c.850del	ENSP00000356293.3:p.Tyr284IlefsTer?
ENST00000475988.1:n.192del
ENST00000622031.4:c.847del	ENSP00000482213.1:p.Tyr283IlefsTer?
NM_000299.3:c.850del	NP_000290.2:p.Tyr284IlefsTer?
NM_001005337.2:c.850del	NP_001005337.1:p.Tyr284IlefsTer?
NM_001005337.3:c.850del MANE Select	NP_001005337.1:p.Tyr284IlefsTer?
NM_000299.4:c.850del	NP_000290.2:p.Tyr284IlefsTer?