Canonical Allele Identifier: CA2026360780

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796319_32796321delinsCAA , CM000674.2:g.32796319_32796321delinsCAA	GRCh38
NC_000012.11:g.32949253_32949255delinsCAA , CM000674.1:g.32949253_32949255delinsCAA	GRCh37
NC_000012.10:g.32840520_32840522delinsCAA	NCBI36
NG_009000.1:g.105526_105528delinsTTG , LRG_398:g.105526_105528delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.671-23_671-21delinsTTG
ENST00000700557.2:n.260-23_260-21delinsTTG
ENST00000700559.2:c.2168-3590_2168-3588delinsTTG	ENSP00000515065.2:n.2168-3590_2168-3588delinsTTG
ENST00000546498.2:n.855-23_855-21delinsTTG
ENST00000549461.2:n.660-23_660-21delinsTTG
ENST00000700555.1:c.599-23_599-21delinsTTG	ENSP00000515062.1:n.599-23_599-21delinsTTG
ENST00000700556.1:c.639-23_639-21delinsTTG
ENST00000700557.1:c.179-23_179-21delinsTTG	ENSP00000515064.1:n.179-23_179-21delinsTTG
ENST00000700558.1:n.382-23_382-21delinsTTG
ENST00000700559.1:c.1383-3590_1383-3588delinsTTG
ENST00000700560.1:n.1383-23_1383-21delinsTTG
ENST00000700561.1:n.1509-23_1509-21delinsTTG
ENST00000070846.11:c.2300-23_2300-21delinsTTG	ENSP00000070846.6:n.2300-23_2300-21delinsTTG
ENST00000340811.9:c.2168-23_2168-21delinsTTG MANE Select	ENSP00000342800.5:n.2168-23_2168-21delinsTTG
ENST00000070846.10:c.2300-23_2300-21delinsTTG	ENSP00000070846.6:n.2300-23_2300-21delinsTTG
ENST00000340811.8:c.2168-23_2168-21delinsTTG	ENSP00000342800.4:n.2168-23_2168-21delinsTTG
ENST00000613243.1:c.2300-23_2300-21delinsTTG	ENSP00000478295.1:n.2300-23_2300-21delinsTTG
NM_001005242.2:c.2168-23_2168-21delinsTTG	NP_001005242.2:n.2168-23_2168-21delinsTTG
NM_004572.3:c.2300-23_2300-21delinsTTG , LRG_398t1:c.2300-23_2300-21delinsTTG	NP_004563.2:n.2300-23_2300-21delinsTTG
NM_001005242.3:c.2168-23_2168-21delinsTTG MANE Select	NP_001005242.2:n.2168-23_2168-21delinsTTG
NM_004572.4:c.2300-23_2300-21delinsTTG	NP_004563.2:n.2300-23_2300-21delinsTTG