Canonical Allele Identifier: CA2586967913

Gene: PKP1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317622_201317626del , CM000663.2:g.201317622_201317626del	GRCh38
NC_000001.10:g.201286750_201286754del , CM000663.1:g.201286750_201286754del	GRCh37
NC_000001.9:g.199553373_199553377del	NCBI36
NG_023337.1:g.39171_39175del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367324.8:c.897_901del MANE Select	ENSP00000356293.4:p.Asn300GlufsTer?
ENST00000263946.7:c.897_901del	ENSP00000263946.3:p.Asn300GlufsTer?
ENST00000352845.3:c.897_901del	ENSP00000295597.3:p.Asn300GlufsTer?
ENST00000367324.7:c.897_901del	ENSP00000356293.3:p.Asn300GlufsTer?
ENST00000475988.1:n.239_243del
ENST00000622031.4:c.894_898del	ENSP00000482213.1:p.Asn299GlufsTer?
NM_000299.3:c.897_901del	NP_000290.2:p.Asn300GlufsTer?
NM_001005337.2:c.897_901del	NP_001005337.1:p.Asn300GlufsTer?
NM_001005337.3:c.897_901del MANE Select	NP_001005337.1:p.Asn300GlufsTer?
NM_000299.4:c.897_901del	NP_000290.2:p.Asn300GlufsTer?