Canonical Allele Identifier: CA2573050775

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32821482_32821486delinsC , CM000674.2:g.32821482_32821486delinsC	GRCh38
NC_000012.11:g.32974416_32974420delinsC , CM000674.1:g.32974416_32974420delinsC	GRCh37
NC_000012.10:g.32865683_32865687delinsC	NCBI36
NG_009000.1:g.80361_80365delinsG , LRG_398:g.80361_80365delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700555.2:n.386_390delinsG
ENST00000700559.2:c.1883_1887delinsG	ENSP00000515065.2:p.Lys628ArgfsTer11
ENST00000700563.2:c.1883_1887delinsG	ENSP00000515066.2:p.Lys628ArgfsTer11
ENST00000546498.2:n.570_574delinsG
ENST00000549461.2:n.422_426delinsG
ENST00000700555.1:c.314_318delinsG	ENSP00000515062.1:p.Lys105ArgfsTer11
ENST00000700556.1:c.354_358delinsG
ENST00000700558.1:n.97_101delinsG
ENST00000700559.1:c.1098_1102delinsG
ENST00000700560.1:n.1098_1102delinsG
ENST00000700561.1:n.1224_1228delinsG
ENST00000700562.1:n.421_425delinsG
ENST00000700563.1:c.1837_1841delinsG
ENST00000700564.1:n.1887_1891delinsG
ENST00000070846.11:c.2015_2019delinsG	ENSP00000070846.6:p.Lys672ArgfsTer11
ENST00000340811.9:c.1883_1887delinsG MANE Select	ENSP00000342800.5:p.Lys628ArgfsTer11
ENST00000070846.10:c.2015_2019delinsG	ENSP00000070846.6:p.Lys672ArgfsTer11
ENST00000340811.8:c.1883_1887delinsG	ENSP00000342800.4:p.Lys628ArgfsTer11
ENST00000546498.1:n.570_574delinsG
ENST00000549461.1:n.329_333delinsG
ENST00000552612.5:n.304_308delinsG
ENST00000613243.1:c.2015_2019delinsG	ENSP00000478295.1:p.Lys672ArgfsTer11
NM_001005242.2:c.1883_1887delinsG	NP_001005242.2:p.Lys628ArgfsTer11
NM_004572.3:c.2015_2019delinsG , LRG_398t1:c.2015_2019delinsG	NP_004563.2:p.Lys672ArgfsTer11
NM_001005242.3:c.1883_1887delinsG MANE Select	NP_001005242.2:p.Lys628ArgfsTer11
NM_004572.4:c.2015_2019delinsG	NP_004563.2:p.Lys672ArgfsTer11