Canonical Allele Identifier: CA2573977612

Gene: PKP1

Linked Data

• gnomAD v4: 1-201317582-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201317585del , CM000663.2:g.201317585del	GRCh38
NC_000001.10:g.201286713del , CM000663.1:g.201286713del	GRCh37
NC_000001.9:g.199553336del	NCBI36
NG_023337.1:g.39134del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367324.8:c.860del MANE Select	ENSP00000356293.4:p.Gly287GlufsTer?
ENST00000263946.7:c.860del	ENSP00000263946.3:p.Gly287GlufsTer?
ENST00000352845.3:c.860del	ENSP00000295597.3:p.Gly287GlufsTer?
ENST00000367324.7:c.860del	ENSP00000356293.3:p.Gly287GlufsTer?
ENST00000475988.1:n.202del
ENST00000622031.4:c.857del	ENSP00000482213.1:p.Gly286GlufsTer?
NM_000299.3:c.860del	NP_000290.2:p.Gly287GlufsTer?
NM_001005337.2:c.860del	NP_001005337.1:p.Gly287GlufsTer?
NM_001005337.3:c.860del MANE Select	NP_001005337.1:p.Gly287GlufsTer?
NM_000299.4:c.860del	NP_000290.2:p.Gly287GlufsTer?