Canonical Allele Identifier: CA2838235316

Gene: PUF60

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143818060del , CM000670.2:g.143818060del	GRCh38
NC_000008.9:g.144972218del	NCBI36
NG_030583.1:g.2321del
NG_033879.1:g.16328del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524570.6:n.1318del
ENST00000526151.6:n.2675del
ENST00000526459.6:c.566del	ENSP00000432610.2:p.Asn189ThrfsTer2
ENST00000527744.6:c.617del	ENSP00000436131.2:p.Asn206ThrfsTer2
ENST00000531951.6:c.491del	ENSP00000515500.1:p.Asn164ThrfsTer2
ENST00000532127.6:c.*465del	ENSP00000515484.1:n.*465del
ENST00000533162.2:c.731del	ENSP00000433403.2:p.Asn244ThrfsTer2
ENST00000533362.2:c.695del	ENSP00000515502.1:p.Asn232ThrfsTer2
ENST00000703744.1:n.1331del
ENST00000703803.1:n.885del
ENST00000703846.1:c.491del	ENSP00000515498.1:p.Asn164ThrfsTer2
ENST00000703847.1:c.731del	ENSP00000515499.1:p.Asn244ThrfsTer2
ENST00000703848.1:n.651del
ENST00000703849.1:c.491del	ENSP00000515501.1:p.Asn164ThrfsTer2
ENST00000703850.1:c.695del	ENSP00000515503.1:p.Asn232ThrfsTer2
ENST00000703851.1:n.540del
ENST00000703852.1:c.*543del	ENSP00000515504.1:n.*543del
ENST00000703853.1:n.534del
ENST00000703866.1:c.620del	ENSP00000515511.1:p.Asn207ThrfsTer2
ENST00000526683.6:c.620del MANE Select	ENSP00000434359.1:p.Asn207ThrfsTer2
ENST00000313352.11:c.440del	ENSP00000322016.7:p.Asn147ThrfsTer2
ENST00000349157.10:c.569del	ENSP00000322036.7:p.Asn190ThrfsTer2
ENST00000453551.6:c.491del	ENSP00000402953.2:p.Asn164ThrfsTer2
ENST00000456095.6:c.533del	ENSP00000395417.2:p.Asn178ThrfsTer2
ENST00000524570.5:n.1306del
ENST00000526459.5:c.566del	ENSP00000432610.1:p.Asn189ThrfsTer2
ENST00000526683.5:c.620del	ENSP00000434359.1:p.Asn207ThrfsTer2
ENST00000527197.5:c.482del	ENSP00000431960.1:p.Asn161ThrfsTer2
ENST00000527744.5:c.613del
ENST00000528320.5:n.749del
ENST00000528999.5:n.351del
ENST00000529999.5:c.680del	ENSP00000434863.1:p.Asn227ThrfsTer2
ENST00000531897.5:c.680del	ENSP00000437309.1:p.Asn227ThrfsTer2
ENST00000531951.5:n.780del
ENST00000532884.1:c.314+17del
NM_001136033.2:c.491del	NP_001129505.1:p.Asn164ThrfsTer2
NM_001271096.1:c.566del	NP_001258025.1:p.Asn189ThrfsTer2
NM_001271097.1:c.482del	NP_001258026.1:p.Asn161ThrfsTer2
NM_001271098.1:c.617del	NP_001258027.1:p.Asn206ThrfsTer2
NM_001271099.1:c.533del	NP_001258028.1:p.Asn178ThrfsTer2
NM_001271100.1:c.440del	NP_001258029.1:p.Asn147ThrfsTer2
NM_014281.4:c.569del	NP_055096.2:p.Asn190ThrfsTer2
NM_078480.2:c.620del	NP_510965.1:p.Asn207ThrfsTer2
XM_011516929.1:c.731del	XP_011515231.1:p.Asn244ThrfsTer2
XM_011516930.1:c.680del	XP_011515232.1:p.Asn227ThrfsTer2
NM_001362895.1:c.731del	NP_001349824.1:p.Asn244ThrfsTer2
NM_001362896.1:c.731del	NP_001349825.1:p.Asn244ThrfsTer2
NM_001362897.1:c.680del	NP_001349826.1:p.Asn227ThrfsTer2
XM_017013234.1:c.731del	XP_016868723.1:p.Asn244ThrfsTer2
XM_017013235.1:c.695del	XP_016868724.1:p.Asn232ThrfsTer2
XM_017013236.1:c.680del	XP_016868725.1:p.Asn227ThrfsTer2
XM_017013239.1:c.491del	XP_016868728.1:p.Asn164ThrfsTer2
XM_017013240.1:c.440del	XP_016868729.1:p.Asn147ThrfsTer2
NM_001136033.3:c.491del	NP_001129505.1:p.Asn164ThrfsTer2
NM_001271096.2:c.566del	NP_001258025.1:p.Asn189ThrfsTer2
NM_001271097.2:c.482del	NP_001258026.1:p.Asn161ThrfsTer2
NM_001271098.2:c.617del	NP_001258027.1:p.Asn206ThrfsTer2
NM_001271099.2:c.533del	NP_001258028.1:p.Asn178ThrfsTer2
NM_001271100.2:c.440del	NP_001258029.1:p.Asn147ThrfsTer2
NM_001362895.2:c.731del	NP_001349824.1:p.Asn244ThrfsTer2
NM_001362896.2:c.731del	NP_001349825.1:p.Asn244ThrfsTer2
NM_001362897.2:c.680del	NP_001349826.1:p.Asn227ThrfsTer2
NM_014281.5:c.569del	NP_055096.2:p.Asn190ThrfsTer2
NM_078480.3:c.620del MANE Select	NP_510965.1:p.Asn207ThrfsTer2