Canonical Allele Identifier: CA2839313199
Gene: PUF60 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143818049dup , CM000670.2:g.143818049dup GRCh38
NC_000008.9:g.144972207dup NCBI36
NG_030583.1:g.2332dup
NG_033879.1:g.16339dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000524570.6:n.1329dup
ENST00000526151.6:n.2686dup
ENST00000526459.6:c.577dup ENSP00000432610.2:p.Ala193GlyfsTer10
ENST00000527744.6:c.628dup ENSP00000436131.2:p.Ala210GlyfsTer10
ENST00000531951.6:c.502dup ENSP00000515500.1:p.Ala168GlyfsTer10
ENST00000532127.6:c.*476dup ENSP00000515484.1:n.*476dup
ENST00000533162.2:c.742dup ENSP00000433403.2:p.Ala248GlyfsTer10
ENST00000533362.2:c.706dup ENSP00000515502.1:p.Ala236GlyfsTer10
ENST00000703744.1:n.1342dup
ENST00000703803.1:n.896dup
ENST00000703846.1:c.502dup ENSP00000515498.1:p.Ala168GlyfsTer10
ENST00000703847.1:c.742dup ENSP00000515499.1:p.Ala248GlyfsTer10
ENST00000703848.1:n.662dup
ENST00000703849.1:c.502dup ENSP00000515501.1:p.Ala168GlyfsTer10
ENST00000703850.1:c.706dup ENSP00000515503.1:p.Ala236GlyfsTer10
ENST00000703851.1:n.551dup
ENST00000703852.1:c.*554dup ENSP00000515504.1:n.*554dup
ENST00000703853.1:n.545dup
ENST00000703866.1:c.631dup ENSP00000515511.1:p.Ala211GlyfsTer10
ENST00000526683.6:c.631dup MANE Select ENSP00000434359.1:p.Ala211GlyfsTer10
ENST00000313352.11:c.451dup ENSP00000322016.7:p.Ala151GlyfsTer10
ENST00000349157.10:c.580dup ENSP00000322036.7:p.Ala194GlyfsTer10
ENST00000453551.6:c.502dup ENSP00000402953.2:p.Ala168GlyfsTer10
ENST00000456095.6:c.544dup ENSP00000395417.2:p.Ala182GlyfsTer10
ENST00000524570.5:n.1317dup
ENST00000526459.5:c.577dup ENSP00000432610.1:p.Ala193GlyfsTer10
ENST00000526683.5:c.631dup ENSP00000434359.1:p.Ala211GlyfsTer10
ENST00000527197.5:c.493dup ENSP00000431960.1:p.Ala165GlyfsTer10
ENST00000527744.5:c.624dup
ENST00000528320.5:n.760dup
ENST00000528999.5:n.362dup
ENST00000529999.5:c.691dup ENSP00000434863.1:p.Ala231GlyfsTer10
ENST00000531897.5:c.691dup ENSP00000437309.1:p.Ala231GlyfsTer10
ENST00000531951.5:n.791dup
ENST00000532884.1:c.314+28dup
NM_001136033.2:c.502dup NP_001129505.1:p.Ala168GlyfsTer10
NM_001271096.1:c.577dup NP_001258025.1:p.Ala193GlyfsTer10
NM_001271097.1:c.493dup NP_001258026.1:p.Ala165GlyfsTer10
NM_001271098.1:c.628dup NP_001258027.1:p.Ala210GlyfsTer10
NM_001271099.1:c.544dup NP_001258028.1:p.Ala182GlyfsTer10
NM_001271100.1:c.451dup NP_001258029.1:p.Ala151GlyfsTer10
NM_014281.4:c.580dup NP_055096.2:p.Ala194GlyfsTer10
NM_078480.2:c.631dup NP_510965.1:p.Ala211GlyfsTer10
XM_011516929.1:c.742dup XP_011515231.1:p.Ala248GlyfsTer10
XM_011516930.1:c.691dup XP_011515232.1:p.Ala231GlyfsTer10
NM_001362895.1:c.742dup NP_001349824.1:p.Ala248GlyfsTer10
NM_001362896.1:c.742dup NP_001349825.1:p.Ala248GlyfsTer10
NM_001362897.1:c.691dup NP_001349826.1:p.Ala231GlyfsTer10
XM_017013234.1:c.742dup XP_016868723.1:p.Ala248GlyfsTer10
XM_017013235.1:c.706dup XP_016868724.1:p.Ala236GlyfsTer10
XM_017013236.1:c.691dup XP_016868725.1:p.Ala231GlyfsTer10
XM_017013239.1:c.502dup XP_016868728.1:p.Ala168GlyfsTer10
XM_017013240.1:c.451dup XP_016868729.1:p.Ala151GlyfsTer10
NM_001136033.3:c.502dup NP_001129505.1:p.Ala168GlyfsTer10
NM_001271096.2:c.577dup NP_001258025.1:p.Ala193GlyfsTer10
NM_001271097.2:c.493dup NP_001258026.1:p.Ala165GlyfsTer10
NM_001271098.2:c.628dup NP_001258027.1:p.Ala210GlyfsTer10
NM_001271099.2:c.544dup NP_001258028.1:p.Ala182GlyfsTer10
NM_001271100.2:c.451dup NP_001258029.1:p.Ala151GlyfsTer10
NM_001362895.2:c.742dup NP_001349824.1:p.Ala248GlyfsTer10
NM_001362896.2:c.742dup NP_001349825.1:p.Ala248GlyfsTer10
NM_001362897.2:c.691dup NP_001349826.1:p.Ala231GlyfsTer10
NM_014281.5:c.580dup NP_055096.2:p.Ala194GlyfsTer10
NM_078480.3:c.631dup MANE Select NP_510965.1:p.Ala211GlyfsTer10