Canonical Allele Identifier: CA2795079943

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796567_32796574del , CM000674.2:g.32796567_32796574del	GRCh38
NC_000012.11:g.32949501_32949508del , CM000674.1:g.32949501_32949508del	GRCh37
NC_000012.10:g.32840768_32840775del	NCBI36
NG_009000.1:g.105274_105281del , LRG_398:g.105274_105281del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.671-275_671-268del
ENST00000700557.2:n.260-275_260-268del
ENST00000700559.2:c.2168-3842_2168-3835del	ENSP00000515065.2:n.2168-3842_2168-3835del
ENST00000546498.2:n.855-275_855-268del
ENST00000549461.2:n.660-275_660-268del
ENST00000700555.1:c.599-275_599-268del	ENSP00000515062.1:n.599-275_599-268del
ENST00000700556.1:c.639-275_639-268del
ENST00000700557.1:c.179-275_179-268del	ENSP00000515064.1:n.179-275_179-268del
ENST00000700558.1:n.382-275_382-268del
ENST00000700559.1:c.1383-3842_1383-3835del
ENST00000700560.1:n.1383-275_1383-268del
ENST00000700561.1:n.1509-275_1509-268del
ENST00000070846.11:c.2300-275_2300-268del	ENSP00000070846.6:n.2300-275_2300-268del
ENST00000340811.9:c.2168-275_2168-268del MANE Select	ENSP00000342800.5:n.2168-275_2168-268del
ENST00000070846.10:c.2300-275_2300-268del	ENSP00000070846.6:n.2300-275_2300-268del
ENST00000340811.8:c.2168-275_2168-268del	ENSP00000342800.4:n.2168-275_2168-268del
ENST00000613243.1:c.2300-275_2300-268del	ENSP00000478295.1:n.2300-275_2300-268del
NM_001005242.2:c.2168-275_2168-268del	NP_001005242.2:n.2168-275_2168-268del
NM_004572.3:c.2300-275_2300-268del , LRG_398t1:c.2300-275_2300-268del	NP_004563.2:n.2300-275_2300-268del
NM_001005242.3:c.2168-275_2168-268del MANE Select	NP_001005242.2:n.2168-275_2168-268del
NM_004572.4:c.2300-275_2300-268del	NP_004563.2:n.2300-275_2300-268del