Canonical Allele Identifier: CA1825988472

Gene: PUF60

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143817606_143817607delinsTG , CM000670.2:g.143817606_143817607delinsTG	GRCh38
NC_000008.9:g.144971764_144971765delinsTG	NCBI36
NG_030583.1:g.2773_2774delinsCA
NG_033879.1:g.16780_16781delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000524570.6:n.1691_1692delinsCA
ENST00000526151.6:n.3048_3049delinsCA
ENST00000526459.6:c.939_940delinsCA	ENSP00000432610.2:p.Ala313=
ENST00000527744.6:c.990_991delinsCA	ENSP00000436131.2:p.Ala330=
ENST00000531951.6:c.864_865delinsCA	ENSP00000515500.1:p.Ala288=
ENST00000532127.6:c.*838_*839delinsCA	ENSP00000515484.1:n.*838_*839delinsCA
ENST00000533162.2:c.1104_1105delinsCA	ENSP00000433403.2:p.Ala368=
ENST00000533362.2:c.1068_1069delinsCA	ENSP00000515502.1:p.Ala356=
ENST00000703744.1:n.1704_1705delinsCA
ENST00000703803.1:n.1258_1259delinsCA
ENST00000703846.1:c.864_865delinsCA	ENSP00000515498.1:p.Ala288=
ENST00000703847.1:c.1104_1105delinsCA	ENSP00000515499.1:p.Ala368=
ENST00000703848.1:n.1024_1025delinsCA
ENST00000703849.1:c.864_865delinsCA	ENSP00000515501.1:p.Ala288=
ENST00000703850.1:c.1068_1069delinsCA	ENSP00000515503.1:p.Ala356=
ENST00000703851.1:n.913_914delinsCA
ENST00000703866.1:c.993_994delinsCA	ENSP00000515511.1:p.Ala331=
ENST00000526683.6:c.993_994delinsCA MANE Select	ENSP00000434359.1:p.Ala331=
ENST00000313352.11:c.813_814delinsCA	ENSP00000322016.7:p.Ala271=
ENST00000349157.10:c.942_943delinsCA	ENSP00000322036.7:p.Ala314=
ENST00000453551.6:c.864_865delinsCA	ENSP00000402953.2:p.Ala288=
ENST00000456095.6:c.906_907delinsCA	ENSP00000395417.2:p.Ala302=
ENST00000524570.5:n.1679_1680delinsCA
ENST00000526459.5:c.939_940delinsCA	ENSP00000432610.1:p.Ala313=
ENST00000526683.5:c.993_994delinsCA	ENSP00000434359.1:p.Ala331=
ENST00000527197.5:c.855_856delinsCA	ENSP00000431960.1:p.Ala285=
ENST00000527744.5:c.986_987delinsCA
ENST00000532884.1:c.602_603delinsCA
NM_001136033.2:c.864_865delinsCA	NP_001129505.1:p.Ala288=
NM_001271096.1:c.939_940delinsCA	NP_001258025.1:p.Ala313=
NM_001271097.1:c.855_856delinsCA	NP_001258026.1:p.Ala285=
NM_001271098.1:c.990_991delinsCA	NP_001258027.1:p.Ala330=
NM_001271099.1:c.906_907delinsCA	NP_001258028.1:p.Ala302=
NM_001271100.1:c.813_814delinsCA	NP_001258029.1:p.Ala271=
NM_014281.4:c.942_943delinsCA	NP_055096.2:p.Ala314=
NM_078480.2:c.993_994delinsCA	NP_510965.1:p.Ala331=
XM_011516929.1:c.1104_1105delinsCA	XP_011515231.1:p.Ala368=
XM_011516930.1:c.1053_1054delinsCA	XP_011515232.1:p.Ala351=
NM_001362895.1:c.1104_1105delinsCA	NP_001349824.1:p.Ala368=
NM_001362896.1:c.1104_1105delinsCA	NP_001349825.1:p.Ala368=
NM_001362897.1:c.1053_1054delinsCA	NP_001349826.1:p.Ala351=
XM_017013234.1:c.1104_1105delinsCA	XP_016868723.1:p.Ala368=
XM_017013235.1:c.1068_1069delinsCA	XP_016868724.1:p.Ala356=
XM_017013236.1:c.1053_1054delinsCA	XP_016868725.1:p.Ala351=
XM_017013239.1:c.864_865delinsCA	XP_016868728.1:p.Ala288=
XM_017013240.1:c.813_814delinsCA	XP_016868729.1:p.Ala271=
NM_001136033.3:c.864_865delinsCA	NP_001129505.1:p.Ala288=
NM_001271096.2:c.939_940delinsCA	NP_001258025.1:p.Ala313=
NM_001271097.2:c.855_856delinsCA	NP_001258026.1:p.Ala285=
NM_001271098.2:c.990_991delinsCA	NP_001258027.1:p.Ala330=
NM_001271099.2:c.906_907delinsCA	NP_001258028.1:p.Ala302=
NM_001271100.2:c.813_814delinsCA	NP_001258029.1:p.Ala271=
NM_001362895.2:c.1104_1105delinsCA	NP_001349824.1:p.Ala368=
NM_001362896.2:c.1104_1105delinsCA	NP_001349825.1:p.Ala368=
NM_001362897.2:c.1053_1054delinsCA	NP_001349826.1:p.Ala351=
NM_014281.5:c.942_943delinsCA	NP_055096.2:p.Ala314=
NM_078480.3:c.993_994delinsCA MANE Select	NP_510965.1:p.Ala331=