Canonical Allele Identifier: CA2026390170

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32851323_32851327delinsGTTTT , CM000674.2:g.32851323_32851327delinsGTTTT	GRCh38
NC_000012.11:g.33004257_33004261delinsGTTTT , CM000674.1:g.33004257_33004261delinsGTTTT	GRCh37
NC_000012.10:g.32895524_32895528delinsGTTTT	NCBI36
NG_009000.1:g.50520_50524delinsAAAAC , LRG_398:g.50520_50524delinsAAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1171-354_1171-350delinsAAAAC	ENSP00000515065.2:n.1171-354_1171-350delinsAAAAC
ENST00000700563.2:c.1171-354_1171-350delinsAAAAC	ENSP00000515066.2:n.1171-354_1171-350delinsAAAAC
ENST00000700559.1:c.386-354_386-350delinsAAAAC
ENST00000700560.1:n.386-354_386-350delinsAAAAC
ENST00000700561.1:n.512-354_512-350delinsAAAAC
ENST00000700563.1:c.1125-354_1125-350delinsAAAAC
ENST00000700564.1:n.1175-354_1175-350delinsAAAAC
ENST00000700565.1:n.1024-354_1024-350delinsAAAAC
ENST00000070846.11:c.1171-354_1171-350delinsAAAAC	ENSP00000070846.6:n.1171-354_1171-350delinsAAAAC
ENST00000340811.9:c.1171-354_1171-350delinsAAAAC MANE Select	ENSP00000342800.5:n.1171-354_1171-350delinsAAAAC
ENST00000070846.10:c.1171-354_1171-350delinsAAAAC	ENSP00000070846.6:n.1171-354_1171-350delinsAAAAC
ENST00000340811.8:c.1171-354_1171-350delinsAAAAC	ENSP00000342800.4:n.1171-354_1171-350delinsAAAAC
ENST00000613243.1:c.1171-354_1171-350delinsAAAAC	ENSP00000478295.1:n.1171-354_1171-350delinsAAAAC
NM_001005242.2:c.1171-354_1171-350delinsAAAAC	NP_001005242.2:n.1171-354_1171-350delinsAAAAC
NM_004572.3:c.1171-354_1171-350delinsAAAAC , LRG_398t1:c.1171-354_1171-350delinsAAAAC	NP_004563.2:n.1171-354_1171-350delinsAAAAC
NM_001005242.3:c.1171-354_1171-350delinsAAAAC MANE Select	NP_001005242.2:n.1171-354_1171-350delinsAAAAC
NM_004572.4:c.1171-354_1171-350delinsAAAAC	NP_004563.2:n.1171-354_1171-350delinsAAAAC