Canonical Allele Identifier: CA2795093599

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841325_32841330del , CM000674.2:g.32841325_32841330del	GRCh38
NC_000012.11:g.32994259_32994264del , CM000674.1:g.32994259_32994264del	GRCh37
NC_000012.10:g.32885526_32885531del	NCBI36
NG_009000.1:g.60521_60526del , LRG_398:g.60521_60526del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1379-121_1379-116del	ENSP00000515065.2:n.1379-121_1379-116del
ENST00000700563.2:c.1379-121_1379-116del	ENSP00000515066.2:n.1379-121_1379-116del
ENST00000700559.1:c.594-121_594-116del
ENST00000700560.1:n.594-121_594-116del
ENST00000700561.1:n.720-121_720-116del
ENST00000700563.1:c.1333-121_1333-116del
ENST00000700564.1:n.1383-121_1383-116del
ENST00000700565.1:n.1232-121_1232-116del
ENST00000070846.11:c.1511-121_1511-116del	ENSP00000070846.6:n.1511-121_1511-116del
ENST00000340811.9:c.1379-121_1379-116del MANE Select	ENSP00000342800.5:n.1379-121_1379-116del
ENST00000070846.10:c.1511-121_1511-116del	ENSP00000070846.6:n.1511-121_1511-116del
ENST00000340811.8:c.1379-121_1379-116del	ENSP00000342800.4:n.1379-121_1379-116del
ENST00000613243.1:c.1511-121_1511-116del	ENSP00000478295.1:n.1511-121_1511-116del
NM_001005242.2:c.1379-121_1379-116del	NP_001005242.2:n.1379-121_1379-116del
NM_004572.3:c.1511-121_1511-116del , LRG_398t1:c.1511-121_1511-116del	NP_004563.2:n.1511-121_1511-116del
NM_001005242.3:c.1379-121_1379-116del MANE Select	NP_001005242.2:n.1379-121_1379-116del
NM_004572.4:c.1511-121_1511-116del	NP_004563.2:n.1511-121_1511-116del