Canonical Allele Identifier: CA1825988834
Community Standard Title: NM_078480.3(PUF60):c.712_713del (p.Ser238ArgfsTer3)
Gene: PUF60 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143817969_143817970del , CM000670.2:g.143817969_143817970del GRCh38
NC_000008.9:g.144972127_144972128del NCBI36
NG_030583.1:g.2413_2414del
NG_033879.1:g.16420_16421del

Transcript Alleles

HGVS Amino-acid Change
NM_078480.3:c.712_713del MANE Select NP_510965.1:p.Ser238ArgfsTer3
ENST00000526683.6:c.712_713del MANE Select ENSP00000434359.1:p.Ser238ArgfsTer3
NM_001136033.2:c.583_584del NP_001129505.1:p.Ser195ArgfsTer3
NM_001136033.3:c.583_584del NP_001129505.1:p.Ser195ArgfsTer3
NM_001271096.1:c.658_659del NP_001258025.1:p.Ser220ArgfsTer3
NM_001271096.2:c.658_659del NP_001258025.1:p.Ser220ArgfsTer3
NM_001271097.1:c.574_575del NP_001258026.1:p.Ser192ArgfsTer3
NM_001271097.2:c.574_575del NP_001258026.1:p.Ser192ArgfsTer3
NM_001271098.1:c.709_710del NP_001258027.1:p.Ser237ArgfsTer3
NM_001271098.2:c.709_710del NP_001258027.1:p.Ser237ArgfsTer3
NM_001271099.1:c.625_626del NP_001258028.1:p.Ser209ArgfsTer3
NM_001271099.2:c.625_626del NP_001258028.1:p.Ser209ArgfsTer3
NM_001271100.1:c.532_533del NP_001258029.1:p.Ser178ArgfsTer3
NM_001271100.2:c.532_533del NP_001258029.1:p.Ser178ArgfsTer3
NM_001362895.1:c.823_824del NP_001349824.1:p.Ser275ArgfsTer3
NM_001362895.2:c.823_824del NP_001349824.1:p.Ser275ArgfsTer3
NM_001362896.1:c.823_824del NP_001349825.1:p.Ser275ArgfsTer3
NM_001362896.2:c.823_824del NP_001349825.1:p.Ser275ArgfsTer3
NM_001362897.1:c.772_773del NP_001349826.1:p.Ser258ArgfsTer3
NM_001362897.2:c.772_773del NP_001349826.1:p.Ser258ArgfsTer3
NM_014281.4:c.661_662del NP_055096.2:p.Ser221ArgfsTer3
NM_014281.5:c.661_662del NP_055096.2:p.Ser221ArgfsTer3
NM_078480.2:c.712_713del NP_510965.1:p.Ser238ArgfsTer3
ENST00000313352.11:c.532_533del ENSP00000322016.7:p.Ser178ArgfsTer3
ENST00000349157.10:c.661_662del ENSP00000322036.7:p.Ser221ArgfsTer3
ENST00000453551.6:c.583_584del ENSP00000402953.2:p.Ser195ArgfsTer3
ENST00000456095.6:c.625_626del ENSP00000395417.2:p.Ser209ArgfsTer3
ENST00000524570.5:n.1398_1399del
ENST00000524570.6:n.1410_1411del
ENST00000526151.6:n.2767_2768del
ENST00000526459.5:c.658_659del ENSP00000432610.1:p.Ser220ArgfsTer3
ENST00000526459.6:c.658_659del ENSP00000432610.2:p.Ser220ArgfsTer3
ENST00000526683.5:c.712_713del ENSP00000434359.1:p.Ser238ArgfsTer3
ENST00000527197.5:c.574_575del ENSP00000431960.1:p.Ser192ArgfsTer3
ENST00000527744.5:c.705_706del
ENST00000527744.6:c.709_710del ENSP00000436131.2:p.Ser237ArgfsTer3
ENST00000528320.5:n.841_842del
ENST00000529999.5:c.772_773del ENSP00000434863.1:p.Ser258ArgfsTer3
ENST00000531951.5:n.872_873del
ENST00000531951.6:c.583_584del ENSP00000515500.1:p.Ser195ArgfsTer3
ENST00000532127.6:c.*557_*558del ENSP00000515484.1:n.*557_*558del
ENST00000532884.1:c.321_322del
ENST00000533162.2:c.823_824del ENSP00000433403.2:p.Ser275ArgfsTer3
ENST00000533362.2:c.787_788del ENSP00000515502.1:p.Ser263ArgfsTer3
ENST00000703744.1:n.1423_1424del
ENST00000703803.1:n.977_978del
ENST00000703846.1:c.583_584del ENSP00000515498.1:p.Ser195ArgfsTer3
ENST00000703847.1:c.823_824del ENSP00000515499.1:p.Ser275ArgfsTer3
ENST00000703848.1:n.743_744del
ENST00000703849.1:c.583_584del ENSP00000515501.1:p.Ser195ArgfsTer3
ENST00000703850.1:c.787_788del ENSP00000515503.1:p.Ser263ArgfsTer3
ENST00000703851.1:n.632_633del
ENST00000703852.1:c.*635_*636del ENSP00000515504.1:n.*635_*636del
ENST00000703866.1:c.712_713del ENSP00000515511.1:p.Ser238ArgfsTer3
XM_011516929.1:c.823_824del XP_011515231.1:p.Ser275ArgfsTer3
XM_011516930.1:c.772_773del XP_011515232.1:p.Ser258ArgfsTer3
XM_017013234.1:c.823_824del XP_016868723.1:p.Ser275ArgfsTer3
XM_017013235.1:c.787_788del XP_016868724.1:p.Ser263ArgfsTer3
XM_017013236.1:c.772_773del XP_016868725.1:p.Ser258ArgfsTer3
XM_017013239.1:c.583_584del XP_016868728.1:p.Ser195ArgfsTer3
XM_017013240.1:c.532_533del XP_016868729.1:p.Ser178ArgfsTer3