Canonical Allele Identifier: CA010964
Gene: PKP2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.32850829_32850837delinsAACTAAAT , CM000674.2:g.32850829_32850837delinsAACTAAAT GRCh38
NC_000012.11:g.33003763_33003771delinsAACTAAAT , CM000674.1:g.33003763_33003771delinsAACTAAAT GRCh37
NC_000012.10:g.32895030_32895038delinsAACTAAAT NCBI36
NG_009000.1:g.51010_51018delinsATTTAGTT , LRG_398:g.51010_51018delinsATTTAGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000700559.2:c.1307_1315delinsATTTAGTT ENSP00000515065.2:p.Leu436HisfsTer11
ENST00000700563.2:c.1307_1315delinsATTTAGTT ENSP00000515066.2:p.Leu436HisfsTer11
ENST00000700559.1:c.522_530delinsATTTAGTT
ENST00000700560.1:n.522_530delinsATTTAGTT
ENST00000700561.1:n.648_656delinsATTTAGTT
ENST00000700563.1:c.1261_1269delinsATTTAGTT
ENST00000700564.1:n.1311_1319delinsATTTAGTT
ENST00000700565.1:n.1160_1168delinsATTTAGTT
ENST00000070846.11:c.1307_1315delinsATTTAGTT ENSP00000070846.6:p.Leu436HisfsTer11
ENST00000340811.9:c.1307_1315delinsATTTAGTT MANE Select ENSP00000342800.5:p.Leu436HisfsTer11
ENST00000070846.10:c.1307_1315delinsATTTAGTT ENSP00000070846.6:p.Leu436HisfsTer11
ENST00000340811.8:c.1307_1315delinsATTTAGTT ENSP00000342800.4:p.Leu436HisfsTer11
ENST00000613243.1:c.1307_1315delinsATTTAGTT ENSP00000478295.1:p.Leu436HisfsTer11
NM_001005242.2:c.1307_1315delinsATTTAGTT NP_001005242.2:p.Leu436HisfsTer11
NM_004572.3:c.1307_1315delinsATTTAGTT , LRG_398t1:c.1307_1315delinsATTTAGTT NP_004563.2:p.Leu436HisfsTer11
NM_001005242.3:c.1307_1315delinsATTTAGTT MANE Select NP_001005242.2:p.Leu436HisfsTer11
NM_004572.4:c.1307_1315delinsATTTAGTT NP_004563.2:p.Leu436HisfsTer11
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