Canonical Allele Identifier: CA2026390033

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32851137_32851138delinsTA , CM000674.2:g.32851137_32851138delinsTA	GRCh38
NC_000012.11:g.33004071_33004072delinsTA , CM000674.1:g.33004071_33004072delinsTA	GRCh37
NC_000012.10:g.32895338_32895339delinsTA	NCBI36
NG_009000.1:g.50709_50710delinsTA , LRG_398:g.50709_50710delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1171-165_1171-164delinsTA	ENSP00000515065.2:n.1171-165_1171-164delinsTA
ENST00000700563.2:c.1171-165_1171-164delinsTA	ENSP00000515066.2:n.1171-165_1171-164delinsTA
ENST00000700559.1:c.386-165_386-164delinsTA
ENST00000700560.1:n.386-165_386-164delinsTA
ENST00000700561.1:n.512-165_512-164delinsTA
ENST00000700563.1:c.1125-165_1125-164delinsTA
ENST00000700564.1:n.1175-165_1175-164delinsTA
ENST00000700565.1:n.1024-165_1024-164delinsTA
ENST00000070846.11:c.1171-165_1171-164delinsTA	ENSP00000070846.6:n.1171-165_1171-164delinsTA
ENST00000340811.9:c.1171-165_1171-164delinsTA MANE Select	ENSP00000342800.5:n.1171-165_1171-164delinsTA
ENST00000070846.10:c.1171-165_1171-164delinsTA	ENSP00000070846.6:n.1171-165_1171-164delinsTA
ENST00000340811.8:c.1171-165_1171-164delinsTA	ENSP00000342800.4:n.1171-165_1171-164delinsTA
ENST00000613243.1:c.1171-165_1171-164delinsTA	ENSP00000478295.1:n.1171-165_1171-164delinsTA
NM_001005242.2:c.1171-165_1171-164delinsTA	NP_001005242.2:n.1171-165_1171-164delinsTA
NM_004572.3:c.1171-165_1171-164delinsTA , LRG_398t1:c.1171-165_1171-164delinsTA	NP_004563.2:n.1171-165_1171-164delinsTA
NM_001005242.3:c.1171-165_1171-164delinsTA MANE Select	NP_001005242.2:n.1171-165_1171-164delinsTA
NM_004572.4:c.1171-165_1171-164delinsTA	NP_004563.2:n.1171-165_1171-164delinsTA