Canonical Allele Identifier: CA2026389476

Gene: PKP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32850828_32850837delinsACCCCATTTA , CM000674.2:g.32850828_32850837delinsACCCCATTTA	GRCh38
NC_000012.11:g.33003762_33003771delinsACCCCATTTA , CM000674.1:g.33003762_33003771delinsACCCCATTTA	GRCh37
NC_000012.10:g.32895029_32895038delinsACCCCATTTA	NCBI36
NG_009000.1:g.51010_51019delinsTAAATGGGGT , LRG_398:g.51010_51019delinsTAAATGGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700559.2:c.1307_1316delinsTAAATGGGGT	ENSP00000515065.2:p.Leu436=
ENST00000700563.2:c.1307_1316delinsTAAATGGGGT	ENSP00000515066.2:p.Leu436=
ENST00000700559.1:c.522_531delinsTAAATGGGGT
ENST00000700560.1:n.522_531delinsTAAATGGGGT
ENST00000700561.1:n.648_657delinsTAAATGGGGT
ENST00000700563.1:c.1261_1270delinsTAAATGGGGT
ENST00000700564.1:n.1311_1320delinsTAAATGGGGT
ENST00000700565.1:n.1160_1169delinsTAAATGGGGT
ENST00000070846.11:c.1307_1316delinsTAAATGGGGT	ENSP00000070846.6:p.Leu436=
ENST00000340811.9:c.1307_1316delinsTAAATGGGGT MANE Select	ENSP00000342800.5:p.Leu436=
ENST00000070846.10:c.1307_1316delinsTAAATGGGGT	ENSP00000070846.6:p.Leu436=
ENST00000340811.8:c.1307_1316delinsTAAATGGGGT	ENSP00000342800.4:p.Leu436=
ENST00000613243.1:c.1307_1316delinsTAAATGGGGT	ENSP00000478295.1:p.Leu436=
NM_001005242.2:c.1307_1316delinsTAAATGGGGT	NP_001005242.2:p.Leu436=
NM_004572.3:c.1307_1316delinsTAAATGGGGT , LRG_398t1:c.1307_1316delinsTAAATGGGGT	NP_004563.2:p.Leu436=
NM_001005242.3:c.1307_1316delinsTAAATGGGGT MANE Select	NP_001005242.2:p.Leu436=
NM_004572.4:c.1307_1316delinsTAAATGGGGT	NP_004563.2:p.Leu436=