Canonical Allele Identifier: CA2838235319

Gene: PUF60

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143818054dup , CM000670.2:g.143818054dup	GRCh38
NC_000008.9:g.144972212dup	NCBI36
NG_030583.1:g.2328dup
NG_033879.1:g.16335dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524570.6:n.1325dup
ENST00000526151.6:n.2682dup
ENST00000526459.6:c.573dup	ENSP00000432610.2:p.Gln192AlafsTer11
ENST00000527744.6:c.624dup	ENSP00000436131.2:p.Gln209AlafsTer11
ENST00000531951.6:c.498dup	ENSP00000515500.1:p.Gln167AlafsTer11
ENST00000532127.6:c.*472dup	ENSP00000515484.1:n.*472dup
ENST00000533162.2:c.738dup	ENSP00000433403.2:p.Gln247AlafsTer11
ENST00000533362.2:c.702dup	ENSP00000515502.1:p.Gln235AlafsTer11
ENST00000703744.1:n.1338dup
ENST00000703803.1:n.892dup
ENST00000703846.1:c.498dup	ENSP00000515498.1:p.Gln167AlafsTer11
ENST00000703847.1:c.738dup	ENSP00000515499.1:p.Gln247AlafsTer11
ENST00000703848.1:n.658dup
ENST00000703849.1:c.498dup	ENSP00000515501.1:p.Gln167AlafsTer11
ENST00000703850.1:c.702dup	ENSP00000515503.1:p.Gln235AlafsTer11
ENST00000703851.1:n.547dup
ENST00000703852.1:c.*550dup	ENSP00000515504.1:n.*550dup
ENST00000703853.1:n.541dup
ENST00000703866.1:c.627dup	ENSP00000515511.1:p.Gln210AlafsTer11
ENST00000526683.6:c.627dup MANE Select	ENSP00000434359.1:p.Gln210AlafsTer11
ENST00000313352.11:c.447dup	ENSP00000322016.7:p.Gln150AlafsTer11
ENST00000349157.10:c.576dup	ENSP00000322036.7:p.Gln193AlafsTer11
ENST00000453551.6:c.498dup	ENSP00000402953.2:p.Gln167AlafsTer11
ENST00000456095.6:c.540dup	ENSP00000395417.2:p.Gln181AlafsTer11
ENST00000524570.5:n.1313dup
ENST00000526459.5:c.573dup	ENSP00000432610.1:p.Gln192AlafsTer11
ENST00000526683.5:c.627dup	ENSP00000434359.1:p.Gln210AlafsTer11
ENST00000527197.5:c.489dup	ENSP00000431960.1:p.Gln164AlafsTer11
ENST00000527744.5:c.620dup
ENST00000528320.5:n.756dup
ENST00000528999.5:n.358dup
ENST00000529999.5:c.687dup	ENSP00000434863.1:p.Gln230AlafsTer11
ENST00000531897.5:c.687dup	ENSP00000437309.1:p.Gln230AlafsTer11
ENST00000531951.5:n.787dup
ENST00000532884.1:c.314+24dup
NM_001136033.2:c.498dup	NP_001129505.1:p.Gln167AlafsTer11
NM_001271096.1:c.573dup	NP_001258025.1:p.Gln192AlafsTer11
NM_001271097.1:c.489dup	NP_001258026.1:p.Gln164AlafsTer11
NM_001271098.1:c.624dup	NP_001258027.1:p.Gln209AlafsTer11
NM_001271099.1:c.540dup	NP_001258028.1:p.Gln181AlafsTer11
NM_001271100.1:c.447dup	NP_001258029.1:p.Gln150AlafsTer11
NM_014281.4:c.576dup	NP_055096.2:p.Gln193AlafsTer11
NM_078480.2:c.627dup	NP_510965.1:p.Gln210AlafsTer11
XM_011516929.1:c.738dup	XP_011515231.1:p.Gln247AlafsTer11
XM_011516930.1:c.687dup	XP_011515232.1:p.Gln230AlafsTer11
NM_001362895.1:c.738dup	NP_001349824.1:p.Gln247AlafsTer11
NM_001362896.1:c.738dup	NP_001349825.1:p.Gln247AlafsTer11
NM_001362897.1:c.687dup	NP_001349826.1:p.Gln230AlafsTer11
XM_017013234.1:c.738dup	XP_016868723.1:p.Gln247AlafsTer11
XM_017013235.1:c.702dup	XP_016868724.1:p.Gln235AlafsTer11
XM_017013236.1:c.687dup	XP_016868725.1:p.Gln230AlafsTer11
XM_017013239.1:c.498dup	XP_016868728.1:p.Gln167AlafsTer11
XM_017013240.1:c.447dup	XP_016868729.1:p.Gln150AlafsTer11
NM_001136033.3:c.498dup	NP_001129505.1:p.Gln167AlafsTer11
NM_001271096.2:c.573dup	NP_001258025.1:p.Gln192AlafsTer11
NM_001271097.2:c.489dup	NP_001258026.1:p.Gln164AlafsTer11
NM_001271098.2:c.624dup	NP_001258027.1:p.Gln209AlafsTer11
NM_001271099.2:c.540dup	NP_001258028.1:p.Gln181AlafsTer11
NM_001271100.2:c.447dup	NP_001258029.1:p.Gln150AlafsTer11
NM_001362895.2:c.738dup	NP_001349824.1:p.Gln247AlafsTer11
NM_001362896.2:c.738dup	NP_001349825.1:p.Gln247AlafsTer11
NM_001362897.2:c.687dup	NP_001349826.1:p.Gln230AlafsTer11
NM_014281.5:c.576dup	NP_055096.2:p.Gln193AlafsTer11
NM_078480.3:c.627dup MANE Select	NP_510965.1:p.Gln210AlafsTer11