Canonical Allele Identifier: CA2026352561

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32878999_32879003delinsTACTC , CM000674.2:g.32878999_32879003delinsTACTC	GRCh38
NC_000012.11:g.33031933_33031937delinsTACTC , CM000674.1:g.33031933_33031937delinsTACTC	GRCh37
NC_000012.10:g.32923200_32923204delinsTACTC	NCBI36
NG_009000.1:g.22844_22848delinsGAGTA , LRG_398:g.22844_22848delinsGAGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.253_257delinsGAGTA	ENSP00000515065.2:p.Glu85=
ENST00000700563.2:c.253_257delinsGAGTA	ENSP00000515066.2:p.Glu85=
ENST00000700563.1:c.207_211delinsGAGTA
ENST00000700564.1:n.257_261delinsGAGTA
ENST00000700565.1:n.106_110delinsGAGTA
ENST00000070846.11:c.253_257delinsGAGTA	ENSP00000070846.6:p.Glu85=
ENST00000340811.9:c.253_257delinsGAGTA MANE Select	ENSP00000342800.5:p.Glu85=
ENST00000070846.10:c.253_257delinsGAGTA	ENSP00000070846.6:p.Glu85=
ENST00000340811.8:c.253_257delinsGAGTA	ENSP00000342800.4:p.Glu85=
ENST00000613243.1:c.253_257delinsGAGTA	ENSP00000478295.1:p.Glu85=
NM_001005242.2:c.253_257delinsGAGTA	NP_001005242.2:p.Glu85=
NM_004572.3:c.253_257delinsGAGTA , LRG_398t1:c.253_257delinsGAGTA	NP_004563.2:p.Glu85=
NM_001005242.3:c.253_257delinsGAGTA MANE Select	NP_001005242.2:p.Glu85=
NM_004572.4:c.253_257delinsGAGTA	NP_004563.2:p.Glu85=