Canonical Allele Identifier: CA1139532676

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32796109_32802556del , CM000674.2:g.32796109_32802556del	GRCh38
NC_000012.11:g.32949043_32955490del , CM000674.1:g.32949043_32955490del	GRCh37
NC_000012.10:g.32840310_32846757del	NCBI36
NG_009000.1:g.99291_105738del , LRG_398:g.99291_105738del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700555.2:n.517_860del
ENST00000700557.2:n.106_449del
ENST00000700559.2:c.2014_2168-3378del
ENST00000546498.2:n.701_1044del
ENST00000549461.2:n.553_849del
ENST00000700555.1:c.445_788del
ENST00000700556.1:c.485_828del
ENST00000700557.1:c.25_368del
ENST00000700558.1:n.228_571del
ENST00000700559.1:c.1229_1383-3378del
ENST00000700560.1:n.1229_1572del
ENST00000700561.1:n.1355_1698del
ENST00000070846.11:c.2146_2489del
ENST00000340811.9:c.2014_2357del
ENST00000070846.10:c.2146_2489del
ENST00000340811.8:c.2014_2357del
ENST00000613243.1:c.2146_2487del
NM_001005242.2:c.2014_2357del
NM_004572.3:c.2146_2489del , LRG_398t1:c.2146_2489del
NM_001005242.3:c.2014_2357del
NM_004572.4:c.2146_2489del