Canonical Allele Identifier: CA2026352458

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32878978_32878983delinsACCAAG , CM000674.2:g.32878978_32878983delinsACCAAG	GRCh38
NC_000012.11:g.33031912_33031917delinsACCAAG , CM000674.1:g.33031912_33031917delinsACCAAG	GRCh37
NC_000012.10:g.32923179_32923184delinsACCAAG	NCBI36
NG_009000.1:g.22864_22869delinsCTTGGT , LRG_398:g.22864_22869delinsCTTGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.273_278delinsCTTGGT	ENSP00000515065.2:p.His91=
ENST00000700563.2:c.273_278delinsCTTGGT	ENSP00000515066.2:p.His91=
ENST00000700563.1:c.227_232delinsCTTGGT
ENST00000700564.1:n.277_282delinsCTTGGT
ENST00000700565.1:n.126_131delinsCTTGGT
ENST00000070846.11:c.273_278delinsCTTGGT	ENSP00000070846.6:p.His91=
ENST00000340811.9:c.273_278delinsCTTGGT MANE Select	ENSP00000342800.5:p.His91=
ENST00000070846.10:c.273_278delinsCTTGGT	ENSP00000070846.6:p.His91=
ENST00000340811.8:c.273_278delinsCTTGGT	ENSP00000342800.4:p.His91=
ENST00000613243.1:c.273_278delinsCTTGGT	ENSP00000478295.1:p.His91=
NM_001005242.2:c.273_278delinsCTTGGT	NP_001005242.2:p.His91=
NM_004572.3:c.273_278delinsCTTGGT , LRG_398t1:c.273_278delinsCTTGGT	NP_004563.2:p.His91=
NM_001005242.3:c.273_278delinsCTTGGT MANE Select	NP_001005242.2:p.His91=
NM_004572.4:c.273_278delinsCTTGGT	NP_004563.2:p.His91=