Canonical Allele Identifier: CA915941966

Gene: PKP1

Linked Data

• ClinVar Variation Id: 812569
• ClinVar RCV Id: RCV001003404
• dbSNP Id: rs1571557821

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317614del , CM000663.2:g.201317614del	GRCh38
NC_000001.10:g.201286742del , CM000663.1:g.201286742del	GRCh37
NC_000001.9:g.199553365del	NCBI36
NG_023337.1:g.39163del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367324.8:c.889del MANE Select	ENSP00000356293.4:p.Arg297AlafsTer?
ENST00000263946.7:c.889del	ENSP00000263946.3:p.Arg297AlafsTer?
ENST00000352845.3:c.889del	ENSP00000295597.3:p.Arg297AlafsTer?
ENST00000367324.7:c.889del	ENSP00000356293.3:p.Arg297AlafsTer?
ENST00000475988.1:n.231del
ENST00000622031.4:c.886del	ENSP00000482213.1:p.Arg296AlafsTer?
NM_000299.3:c.889del	NP_000290.2:p.Arg297AlafsTer?
NM_001005337.2:c.889del	NP_001005337.1:p.Arg297AlafsTer?
NM_001005337.3:c.889del MANE Select	NP_001005337.1:p.Arg297AlafsTer?
NM_000299.4:c.889del	NP_000290.2:p.Arg297AlafsTer?