Canonical Allele Identifier: CA2026361196

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796548_32796556delinsAATTTTTTT , CM000674.2:g.32796548_32796556delinsAATTTTTTT	GRCh38
NC_000012.11:g.32949482_32949490delinsAATTTTTTT , CM000674.1:g.32949482_32949490delinsAATTTTTTT	GRCh37
NC_000012.10:g.32840749_32840757delinsAATTTTTTT	NCBI36
NG_009000.1:g.105291_105299delinsAAAAAAATT , LRG_398:g.105291_105299delinsAAAAAAATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.671-258_671-250delinsAAAAAAATT
ENST00000700557.2:n.260-258_260-250delinsAAAAAAATT
ENST00000700559.2:c.2168-3825_2168-3817delinsAAAAAAATT	ENSP00000515065.2:n.2168-3825_2168-3817delinsAAAAAAATT
ENST00000546498.2:n.855-258_855-250delinsAAAAAAATT
ENST00000549461.2:n.660-258_660-250delinsAAAAAAATT
ENST00000700555.1:c.599-258_599-250delinsAAAAAAATT	ENSP00000515062.1:n.599-258_599-250delinsAAAAAAATT
ENST00000700556.1:c.639-258_639-250delinsAAAAAAATT
ENST00000700557.1:c.179-258_179-250delinsAAAAAAATT	ENSP00000515064.1:n.179-258_179-250delinsAAAAAAATT
ENST00000700558.1:n.382-258_382-250delinsAAAAAAATT
ENST00000700559.1:c.1383-3825_1383-3817delinsAAAAAAATT
ENST00000700560.1:n.1383-258_1383-250delinsAAAAAAATT
ENST00000700561.1:n.1509-258_1509-250delinsAAAAAAATT
ENST00000070846.11:c.2300-258_2300-250delinsAAAAAAATT	ENSP00000070846.6:n.2300-258_2300-250delinsAAAAAAATT
ENST00000340811.9:c.2168-258_2168-250delinsAAAAAAATT MANE Select	ENSP00000342800.5:n.2168-258_2168-250delinsAAAAAAATT
ENST00000070846.10:c.2300-258_2300-250delinsAAAAAAATT	ENSP00000070846.6:n.2300-258_2300-250delinsAAAAAAATT
ENST00000340811.8:c.2168-258_2168-250delinsAAAAAAATT	ENSP00000342800.4:n.2168-258_2168-250delinsAAAAAAATT
ENST00000613243.1:c.2300-258_2300-250delinsAAAAAAATT	ENSP00000478295.1:n.2300-258_2300-250delinsAAAAAAATT
NM_001005242.2:c.2168-258_2168-250delinsAAAAAAATT	NP_001005242.2:n.2168-258_2168-250delinsAAAAAAATT
NM_004572.3:c.2300-258_2300-250delinsAAAAAAATT , LRG_398t1:c.2300-258_2300-250delinsAAAAAAATT	NP_004563.2:n.2300-258_2300-250delinsAAAAAAATT
NM_001005242.3:c.2168-258_2168-250delinsAAAAAAATT MANE Select	NP_001005242.2:n.2168-258_2168-250delinsAAAAAAATT
NM_004572.4:c.2300-258_2300-250delinsAAAAAAATT	NP_004563.2:n.2300-258_2300-250delinsAAAAAAATT