Canonical Allele Identifier: CA2026342989

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32869091_32869100delinsATTCCAAACC , CM000674.2:g.32869091_32869100delinsATTCCAAACC	GRCh38
NC_000012.11:g.33022025_33022034delinsATTCCAAACC , CM000674.1:g.33022025_33022034delinsATTCCAAACC	GRCh37
NC_000012.10:g.32913292_32913301delinsATTCCAAACC	NCBI36
NG_009000.1:g.32747_32756delinsGGTTTGGAAT , LRG_398:g.32747_32756delinsGGTTTGGAAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.1035-38_1035-29delinsGGTTTGGAAT	ENSP00000515065.2:n.1035-38_1035-29delinsGGTTTGGAAT
ENST00000700563.2:c.1035-38_1035-29delinsGGTTTGGAAT	ENSP00000515066.2:n.1035-38_1035-29delinsGGTTTGGAAT
ENST00000700559.1:c.250-38_250-29delinsGGTTTGGAAT
ENST00000700560.1:n.250-38_250-29delinsGGTTTGGAAT
ENST00000700561.1:n.376-38_376-29delinsGGTTTGGAAT
ENST00000700563.1:c.989-38_989-29delinsGGTTTGGAAT
ENST00000700564.1:n.1039-38_1039-29delinsGGTTTGGAAT
ENST00000700565.1:n.888-38_888-29delinsGGTTTGGAAT
ENST00000070846.11:c.1035-38_1035-29delinsGGTTTGGAAT	ENSP00000070846.6:n.1035-38_1035-29delinsGGTTTGGAAT
ENST00000340811.9:c.1035-38_1035-29delinsGGTTTGGAAT MANE Select	ENSP00000342800.5:n.1035-38_1035-29delinsGGTTTGGAAT
ENST00000070846.10:c.1035-38_1035-29delinsGGTTTGGAAT	ENSP00000070846.6:n.1035-38_1035-29delinsGGTTTGGAAT
ENST00000340811.8:c.1035-38_1035-29delinsGGTTTGGAAT	ENSP00000342800.4:n.1035-38_1035-29delinsGGTTTGGAAT
ENST00000613243.1:c.1035-38_1035-29delinsGGTTTGGAAT	ENSP00000478295.1:n.1035-38_1035-29delinsGGTTTGGAAT
NM_001005242.2:c.1035-38_1035-29delinsGGTTTGGAAT	NP_001005242.2:n.1035-38_1035-29delinsGGTTTGGAAT
NM_004572.3:c.1035-38_1035-29delinsGGTTTGGAAT , LRG_398t1:c.1035-38_1035-29delinsGGTTTGGAAT	NP_004563.2:n.1035-38_1035-29delinsGGTTTGGAAT
NM_001005242.3:c.1035-38_1035-29delinsGGTTTGGAAT MANE Select	NP_001005242.2:n.1035-38_1035-29delinsGGTTTGGAAT
NM_004572.4:c.1035-38_1035-29delinsGGTTTGGAAT	NP_004563.2:n.1035-38_1035-29delinsGGTTTGGAAT