Canonical Allele Identifier: CA1219691296
Gene: PKP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201317702_201317703delinsGG , CM000663.2:g.201317702_201317703delinsGG GRCh38
NC_000001.10:g.201286830_201286831delinsGG , CM000663.1:g.201286830_201286831delinsGG GRCh37
NC_000001.9:g.199553453_199553454delinsGG NCBI36
NG_023337.1:g.39251_39252delinsGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000367324.8:c.977_978delinsGG MANE Select ENSP00000356293.4:p.Arg326=
ENST00000263946.7:c.977_978delinsGG ENSP00000263946.3:p.Arg326=
ENST00000352845.3:c.977_978delinsGG ENSP00000295597.3:p.Arg326=
ENST00000367324.7:c.977_978delinsGG ENSP00000356293.3:p.Arg326=
ENST00000475988.1:n.319_320delinsGG
ENST00000622031.4:c.974_975delinsGG ENSP00000482213.1:p.Arg325=
NM_000299.3:c.977_978delinsGG NP_000290.2:p.Arg326=
NM_001005337.2:c.977_978delinsGG NP_001005337.1:p.Arg326=
NM_001005337.3:c.977_978delinsGG MANE Select NP_001005337.1:p.Arg326=
NM_000299.4:c.977_978delinsGG NP_000290.2:p.Arg326=