Canonical Allele Identifier: CA2573148715

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32792678_32792681del , CM000674.2:g.32792678_32792681del	GRCh38
NC_000012.11:g.32945612_32945615del , CM000674.1:g.32945612_32945615del	GRCh37
NC_000012.10:g.32836879_32836882del	NCBI36
NG_009000.1:g.109166_109169del , LRG_398:g.109166_109169del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.911_914del
ENST00000700557.2:n.500_503del
ENST00000700559.2:c.2218_2221del	ENSP00000515065.2:p.Cys740GlyfsTer15
ENST00000546498.2:n.1095_1098del
ENST00000549461.2:n.900_903del
ENST00000700555.1:c.839_842del	ENSP00000515062.1:p.Leu280ArgfsTer?
ENST00000700556.1:c.879_882del
ENST00000700557.1:c.419_422del	ENSP00000515064.1:p.Leu140ArgfsTer?
ENST00000700558.1:n.622_625del
ENST00000700559.1:c.1433_1436del
ENST00000700560.1:n.1623_1626del
ENST00000070846.11:c.2540_2543del	ENSP00000070846.6:p.Leu847ArgfsTer?
ENST00000340811.9:c.2408_2411del MANE Select	ENSP00000342800.5:p.Leu803ArgfsTer?
ENST00000070846.10:c.2540_2543del	ENSP00000070846.6:p.Leu847ArgfsTer?
ENST00000340811.8:c.2408_2411del	ENSP00000342800.4:p.Leu803ArgfsTer?
ENST00000546769.1:n.195_198del
ENST00000613243.1:c.2538_2541del	ENSP00000478295.1:n.2538_2541del
NM_001005242.2:c.2408_2411del	NP_001005242.2:p.Leu803ArgfsTer?
NM_004572.3:c.2540_2543del , LRG_398t1:c.2540_2543del	NP_004563.2:p.Leu847ArgfsTer?
NM_001005242.3:c.2408_2411del MANE Select	NP_001005242.2:p.Leu803ArgfsTer?
NM_004572.4:c.2540_2543del	NP_004563.2:p.Leu847ArgfsTer?