Canonical Allele Identifier: CA2026390104

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32851244_32851248delinsCTAGT , CM000674.2:g.32851244_32851248delinsCTAGT	GRCh38
NC_000012.11:g.33004178_33004182delinsCTAGT , CM000674.1:g.33004178_33004182delinsCTAGT	GRCh37
NC_000012.10:g.32895445_32895449delinsCTAGT	NCBI36
NG_009000.1:g.50599_50603delinsACTAG , LRG_398:g.50599_50603delinsACTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1171-275_1171-271delinsACTAG	ENSP00000515065.2:n.1171-275_1171-271delinsACTAG
ENST00000700563.2:c.1171-275_1171-271delinsACTAG	ENSP00000515066.2:n.1171-275_1171-271delinsACTAG
ENST00000700559.1:c.386-275_386-271delinsACTAG
ENST00000700560.1:n.386-275_386-271delinsACTAG
ENST00000700561.1:n.512-275_512-271delinsACTAG
ENST00000700563.1:c.1125-275_1125-271delinsACTAG
ENST00000700564.1:n.1175-275_1175-271delinsACTAG
ENST00000700565.1:n.1024-275_1024-271delinsACTAG
ENST00000070846.11:c.1171-275_1171-271delinsACTAG	ENSP00000070846.6:n.1171-275_1171-271delinsACTAG
ENST00000340811.9:c.1171-275_1171-271delinsACTAG MANE Select	ENSP00000342800.5:n.1171-275_1171-271delinsACTAG
ENST00000070846.10:c.1171-275_1171-271delinsACTAG	ENSP00000070846.6:n.1171-275_1171-271delinsACTAG
ENST00000340811.8:c.1171-275_1171-271delinsACTAG	ENSP00000342800.4:n.1171-275_1171-271delinsACTAG
ENST00000613243.1:c.1171-275_1171-271delinsACTAG	ENSP00000478295.1:n.1171-275_1171-271delinsACTAG
NM_001005242.2:c.1171-275_1171-271delinsACTAG	NP_001005242.2:n.1171-275_1171-271delinsACTAG
NM_004572.3:c.1171-275_1171-271delinsACTAG , LRG_398t1:c.1171-275_1171-271delinsACTAG	NP_004563.2:n.1171-275_1171-271delinsACTAG
NM_001005242.3:c.1171-275_1171-271delinsACTAG MANE Select	NP_001005242.2:n.1171-275_1171-271delinsACTAG
NM_004572.4:c.1171-275_1171-271delinsACTAG	NP_004563.2:n.1171-275_1171-271delinsACTAG