Canonical Allele Identifier: CA2026389208

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850651_32850652delinsCA , CM000674.2:g.32850651_32850652delinsCA	GRCh38
NC_000012.11:g.33003585_33003586delinsCA , CM000674.1:g.33003585_33003586delinsCA	GRCh37
NC_000012.10:g.32894852_32894853delinsCA	NCBI36
NG_009000.1:g.51195_51196delinsTG , LRG_398:g.51195_51196delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1378+114_1378+115delinsTG	ENSP00000515065.2:n.1378+114_1378+115delinsTG
ENST00000700563.2:c.1378+114_1378+115delinsTG	ENSP00000515066.2:n.1378+114_1378+115delinsTG
ENST00000700559.1:c.593+114_593+115delinsTG
ENST00000700560.1:n.593+114_593+115delinsTG
ENST00000700561.1:n.719+114_719+115delinsTG
ENST00000700563.1:c.1332+114_1332+115delinsTG
ENST00000700564.1:n.1382+114_1382+115delinsTG
ENST00000700565.1:n.1231+114_1231+115delinsTG
ENST00000070846.11:c.1378+114_1378+115delinsTG	ENSP00000070846.6:n.1378+114_1378+115delinsTG
ENST00000340811.9:c.1378+114_1378+115delinsTG MANE Select	ENSP00000342800.5:n.1378+114_1378+115delinsTG
ENST00000070846.10:c.1378+114_1378+115delinsTG	ENSP00000070846.6:n.1378+114_1378+115delinsTG
ENST00000340811.8:c.1378+114_1378+115delinsTG	ENSP00000342800.4:n.1378+114_1378+115delinsTG
ENST00000613243.1:c.1378+114_1378+115delinsTG	ENSP00000478295.1:n.1378+114_1378+115delinsTG
NM_001005242.2:c.1378+114_1378+115delinsTG	NP_001005242.2:n.1378+114_1378+115delinsTG
NM_004572.3:c.1378+114_1378+115delinsTG , LRG_398t1:c.1378+114_1378+115delinsTG	NP_004563.2:n.1378+114_1378+115delinsTG
NM_001005242.3:c.1378+114_1378+115delinsTG MANE Select	NP_001005242.2:n.1378+114_1378+115delinsTG
NM_004572.4:c.1378+114_1378+115delinsTG	NP_004563.2:n.1378+114_1378+115delinsTG