Canonical Allele Identifier: CA2026374329

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32841353_32841364delinsAAGAACCCAATT , CM000674.2:g.32841353_32841364delinsAAGAACCCAATT	GRCh38
NC_000012.11:g.32994287_32994298delinsAAGAACCCAATT , CM000674.1:g.32994287_32994298delinsAAGAACCCAATT	GRCh37
NC_000012.10:g.32885554_32885565delinsAAGAACCCAATT	NCBI36
NG_009000.1:g.60483_60494delinsAATTGGGTTCTT , LRG_398:g.60483_60494delinsAATTGGGTTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1379-159_1379-148delinsAATTGGGTTCTT	ENSP00000515065.2:n.1379-159_1379-148delinsAATTGGGTTCTT
ENST00000700563.2:c.1379-159_1379-148delinsAATTGGGTTCTT	ENSP00000515066.2:n.1379-159_1379-148delinsAATTGGGTTCTT
ENST00000700559.1:c.594-159_594-148delinsAATTGGGTTCTT
ENST00000700560.1:n.594-159_594-148delinsAATTGGGTTCTT
ENST00000700561.1:n.720-159_720-148delinsAATTGGGTTCTT
ENST00000700563.1:c.1333-159_1333-148delinsAATTGGGTTCTT
ENST00000700564.1:n.1383-159_1383-148delinsAATTGGGTTCTT
ENST00000700565.1:n.1232-159_1232-148delinsAATTGGGTTCTT
ENST00000070846.11:c.1511-159_1511-148delinsAATTGGGTTCTT	ENSP00000070846.6:n.1511-159_1511-148delinsAATTGGGTTCTT
ENST00000340811.9:c.1379-159_1379-148delinsAATTGGGTTCTT MANE Select	ENSP00000342800.5:n.1379-159_1379-148delinsAATTGGGTTCTT
ENST00000070846.10:c.1511-159_1511-148delinsAATTGGGTTCTT	ENSP00000070846.6:n.1511-159_1511-148delinsAATTGGGTTCTT
ENST00000340811.8:c.1379-159_1379-148delinsAATTGGGTTCTT	ENSP00000342800.4:n.1379-159_1379-148delinsAATTGGGTTCTT
ENST00000613243.1:c.1511-159_1511-148delinsAATTGGGTTCTT	ENSP00000478295.1:n.1511-159_1511-148delinsAATTGGGTTCTT
NM_001005242.2:c.1379-159_1379-148delinsAATTGGGTTCTT	NP_001005242.2:n.1379-159_1379-148delinsAATTGGGTTCTT
NM_004572.3:c.1511-159_1511-148delinsAATTGGGTTCTT , LRG_398t1:c.1511-159_1511-148delinsAATTGGGTTCTT	NP_004563.2:n.1511-159_1511-148delinsAATTGGGTTCTT
NM_001005242.3:c.1379-159_1379-148delinsAATTGGGTTCTT MANE Select	NP_001005242.2:n.1379-159_1379-148delinsAATTGGGTTCTT
NM_004572.4:c.1511-159_1511-148delinsAATTGGGTTCTT	NP_004563.2:n.1511-159_1511-148delinsAATTGGGTTCTT