Canonical Allele Identifier: CA2579274000

Gene: PUF60

Linked Data

• gnomAD v4: 8-143818205-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143818211del , CM000670.2:g.143818211del	GRCh38
NC_000008.9:g.144972369del	NCBI36
NG_030583.1:g.2174del
NG_033879.1:g.16181del

Transcript Alleles

HGVS	Amino-acid change
ENST00000524570.6:n.1288del
ENST00000526151.6:n.2645del
ENST00000526459.6:c.536del	ENSP00000432610.2:p.Gly179AlafsTer12
ENST00000527744.6:c.587del	ENSP00000436131.2:p.Gly196AlafsTer12
ENST00000531951.6:c.461del	ENSP00000515500.1:p.Gly154AlafsTer12
ENST00000532127.6:c.*435del	ENSP00000515484.1:n.*435del
ENST00000533162.2:c.701del	ENSP00000433403.2:p.Gly234AlafsTer12
ENST00000533362.2:c.665del	ENSP00000515502.1:p.Gly222AlafsTer12
ENST00000703744.1:n.1301del
ENST00000703803.1:n.738del
ENST00000703846.1:c.461del	ENSP00000515498.1:p.Gly154AlafsTer12
ENST00000703847.1:c.701del	ENSP00000515499.1:p.Gly234AlafsTer12
ENST00000703848.1:n.621del
ENST00000703849.1:c.461del	ENSP00000515501.1:p.Gly154AlafsTer12
ENST00000703850.1:c.665del	ENSP00000515503.1:p.Gly222AlafsTer12
ENST00000703851.1:n.510del
ENST00000703852.1:c.*513del	ENSP00000515504.1:n.*513del
ENST00000703853.1:n.504del
ENST00000703866.1:c.590del	ENSP00000515511.1:p.Gly197AlafsTer12
ENST00000526683.6:c.590del MANE Select	ENSP00000434359.1:p.Gly197AlafsTer12
ENST00000313352.11:c.410del	ENSP00000322016.7:p.Gly137AlafsTer12
ENST00000349157.10:c.539del	ENSP00000322036.7:p.Gly180AlafsTer12
ENST00000453551.6:c.461del	ENSP00000402953.2:p.Gly154AlafsTer12
ENST00000456095.6:c.503del	ENSP00000395417.2:p.Gly168AlafsTer12
ENST00000524570.5:n.1276del
ENST00000526459.5:c.536del	ENSP00000432610.1:p.Gly179AlafsTer12
ENST00000526683.5:c.590del	ENSP00000434359.1:p.Gly197AlafsTer12
ENST00000527197.5:c.452del	ENSP00000431960.1:p.Gly151AlafsTer12
ENST00000527744.5:c.583del
ENST00000528320.5:n.602del
ENST00000528999.5:n.321del
ENST00000529693.1:n.671del
ENST00000529999.5:c.650del	ENSP00000434863.1:p.Gly217AlafsTer12
ENST00000531897.5:c.650del	ENSP00000437309.1:p.Gly217AlafsTer12
ENST00000531951.5:n.750del
ENST00000532884.1:c.184del
NM_001136033.2:c.461del	NP_001129505.1:p.Gly154AlafsTer12
NM_001271096.1:c.536del	NP_001258025.1:p.Gly179AlafsTer12
NM_001271097.1:c.452del	NP_001258026.1:p.Gly151AlafsTer12
NM_001271098.1:c.587del	NP_001258027.1:p.Gly196AlafsTer12
NM_001271099.1:c.503del	NP_001258028.1:p.Gly168AlafsTer12
NM_001271100.1:c.410del	NP_001258029.1:p.Gly137AlafsTer12
NM_014281.4:c.539del	NP_055096.2:p.Gly180AlafsTer12
NM_078480.2:c.590del	NP_510965.1:p.Gly197AlafsTer12
XM_011516929.1:c.701del	XP_011515231.1:p.Gly234AlafsTer12
XM_011516930.1:c.650del	XP_011515232.1:p.Gly217AlafsTer12
NM_001362895.1:c.701del	NP_001349824.1:p.Gly234AlafsTer12
NM_001362896.1:c.701del	NP_001349825.1:p.Gly234AlafsTer12
NM_001362897.1:c.650del	NP_001349826.1:p.Gly217AlafsTer12
XM_017013234.1:c.701del	XP_016868723.1:p.Gly234AlafsTer12
XM_017013235.1:c.665del	XP_016868724.1:p.Gly222AlafsTer12
XM_017013236.1:c.650del	XP_016868725.1:p.Gly217AlafsTer12
XM_017013239.1:c.461del	XP_016868728.1:p.Gly154AlafsTer12
XM_017013240.1:c.410del	XP_016868729.1:p.Gly137AlafsTer12
NM_001136033.3:c.461del	NP_001129505.1:p.Gly154AlafsTer12
NM_001271096.2:c.536del	NP_001258025.1:p.Gly179AlafsTer12
NM_001271097.2:c.452del	NP_001258026.1:p.Gly151AlafsTer12
NM_001271098.2:c.587del	NP_001258027.1:p.Gly196AlafsTer12
NM_001271099.2:c.503del	NP_001258028.1:p.Gly168AlafsTer12
NM_001271100.2:c.410del	NP_001258029.1:p.Gly137AlafsTer12
NM_001362895.2:c.701del	NP_001349824.1:p.Gly234AlafsTer12
NM_001362896.2:c.701del	NP_001349825.1:p.Gly234AlafsTer12
NM_001362897.2:c.650del	NP_001349826.1:p.Gly217AlafsTer12
NM_014281.5:c.539del	NP_055096.2:p.Gly180AlafsTer12
NM_078480.3:c.590del MANE Select	NP_510965.1:p.Gly197AlafsTer12