Canonical Allele Identifier: CA2026350126

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32877904_32877912delinsCGGCCGCCT , CM000674.2:g.32877904_32877912delinsCGGCCGCCT	GRCh38
NC_000012.11:g.33030838_33030846delinsCGGCCGCCT , CM000674.1:g.33030838_33030846delinsCGGCCGCCT	GRCh37
NC_000012.10:g.32922105_32922113delinsCGGCCGCCT	NCBI36
NG_009000.1:g.23935_23943delinsAGGCGGCCG , LRG_398:g.23935_23943delinsAGGCGGCCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000700559.2:c.968_976delinsAGGCGGCCG	ENSP00000515065.2:p.Gln323=
ENST00000700563.2:c.968_976delinsAGGCGGCCG	ENSP00000515066.2:p.Gln323=
ENST00000700559.1:c.183_191delinsAGGCGGCCG
ENST00000700560.1:n.183_191delinsAGGCGGCCG
ENST00000700561.1:n.309_317delinsAGGCGGCCG
ENST00000700563.1:c.922_930delinsAGGCGGCCG
ENST00000700564.1:n.972_980delinsAGGCGGCCG
ENST00000700565.1:n.821_829delinsAGGCGGCCG
ENST00000070846.11:c.968_976delinsAGGCGGCCG	ENSP00000070846.6:p.Gln323=
ENST00000340811.9:c.968_976delinsAGGCGGCCG MANE Select	ENSP00000342800.5:p.Gln323=
ENST00000070846.10:c.968_976delinsAGGCGGCCG	ENSP00000070846.6:p.Gln323=
ENST00000340811.8:c.968_976delinsAGGCGGCCG	ENSP00000342800.4:p.Gln323=
ENST00000613243.1:c.968_976delinsAGGCGGCCG	ENSP00000478295.1:p.Gln323=
NM_001005242.2:c.968_976delinsAGGCGGCCG	NP_001005242.2:p.Gln323=
NM_004572.3:c.968_976delinsAGGCGGCCG , LRG_398t1:c.968_976delinsAGGCGGCCG	NP_004563.2:p.Gln323=
NM_001005242.3:c.968_976delinsAGGCGGCCG MANE Select	NP_001005242.2:p.Gln323=
NM_004572.4:c.968_976delinsAGGCGGCCG	NP_004563.2:p.Gln323=