Canonical Allele Identifier: CA372489095

Gene: PUF60

Linked Data

• MyVariant Identifiers: chr8:g.143817623_143817624del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143817623_143817624del , CM000670.2:g.143817623_143817624del	GRCh38
NC_000008.9:g.144971781_144971782del	NCBI36
NG_030583.1:g.2756_2757del
NG_033879.1:g.16763_16764del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524570.6:n.1674_1675del
ENST00000526151.6:n.3031_3032del
ENST00000526459.6:c.922_923del	ENSP00000432610.2:p.Ala308CysfsTer?
ENST00000527744.6:c.973_974del	ENSP00000436131.2:p.Ala325CysfsTer?
ENST00000531951.6:c.847_848del	ENSP00000515500.1:p.Ala283CysfsTer?
ENST00000532127.6:c.*821_*822del	ENSP00000515484.1:n.*821_*822del
ENST00000533162.2:c.1087_1088del	ENSP00000433403.2:p.Ala363CysfsTer?
ENST00000533362.2:c.1051_1052del	ENSP00000515502.1:p.Ala351CysfsTer?
ENST00000703744.1:n.1687_1688del
ENST00000703803.1:n.1241_1242del
ENST00000703846.1:c.847_848del	ENSP00000515498.1:p.Ala283CysfsTer?
ENST00000703847.1:c.1087_1088del	ENSP00000515499.1:p.Ala363CysfsTer?
ENST00000703848.1:n.1007_1008del
ENST00000703849.1:c.847_848del	ENSP00000515501.1:p.Ala283CysfsTer?
ENST00000703850.1:c.1051_1052del	ENSP00000515503.1:p.Ala351CysfsTer?
ENST00000703851.1:n.896_897del
ENST00000703866.1:c.976_977del	ENSP00000515511.1:p.Ala326CysfsTer?
ENST00000526683.6:c.976_977del MANE Select	ENSP00000434359.1:p.Ala326CysfsTer?
ENST00000313352.11:c.796_797del	ENSP00000322016.7:p.Ala266CysfsTer?
ENST00000349157.10:c.925_926del	ENSP00000322036.7:p.Ala309CysfsTer?
ENST00000453551.6:c.847_848del	ENSP00000402953.2:p.Ala283CysfsTer?
ENST00000456095.6:c.889_890del	ENSP00000395417.2:p.Ala297CysfsTer?
ENST00000524570.5:n.1662_1663del
ENST00000526459.5:c.922_923del	ENSP00000432610.1:p.Ala308CysfsTer?
ENST00000526683.5:c.976_977del	ENSP00000434359.1:p.Ala326CysfsTer?
ENST00000527197.5:c.838_839del	ENSP00000431960.1:p.Ala280CysfsTer?
ENST00000527744.5:c.969_970del
ENST00000532884.1:c.585_586del
NM_001136033.2:c.847_848del	NP_001129505.1:p.Ala283CysfsTer?
NM_001271096.1:c.922_923del	NP_001258025.1:p.Ala308CysfsTer?
NM_001271097.1:c.838_839del	NP_001258026.1:p.Ala280CysfsTer?
NM_001271098.1:c.973_974del	NP_001258027.1:p.Ala325CysfsTer?
NM_001271099.1:c.889_890del	NP_001258028.1:p.Ala297CysfsTer?
NM_001271100.1:c.796_797del	NP_001258029.1:p.Ala266CysfsTer?
NM_014281.4:c.925_926del	NP_055096.2:p.Ala309CysfsTer?
NM_078480.2:c.976_977del	NP_510965.1:p.Ala326CysfsTer?
XM_011516929.1:c.1087_1088del	XP_011515231.1:p.Ala363CysfsTer?
XM_011516930.1:c.1036_1037del	XP_011515232.1:p.Ala346CysfsTer?
NM_001362895.1:c.1087_1088del	NP_001349824.1:p.Ala363CysfsTer?
NM_001362896.1:c.1087_1088del	NP_001349825.1:p.Ala363CysfsTer?
NM_001362897.1:c.1036_1037del	NP_001349826.1:p.Ala346CysfsTer?
XM_017013234.1:c.1087_1088del	XP_016868723.1:p.Ala363CysfsTer?
XM_017013235.1:c.1051_1052del	XP_016868724.1:p.Ala351CysfsTer?
XM_017013236.1:c.1036_1037del	XP_016868725.1:p.Ala346CysfsTer?
XM_017013239.1:c.847_848del	XP_016868728.1:p.Ala283CysfsTer?
XM_017013240.1:c.796_797del	XP_016868729.1:p.Ala266CysfsTer?
NM_001136033.3:c.847_848del	NP_001129505.1:p.Ala283CysfsTer?
NM_001271096.2:c.922_923del	NP_001258025.1:p.Ala308CysfsTer?
NM_001271097.2:c.838_839del	NP_001258026.1:p.Ala280CysfsTer?
NM_001271098.2:c.973_974del	NP_001258027.1:p.Ala325CysfsTer?
NM_001271099.2:c.889_890del	NP_001258028.1:p.Ala297CysfsTer?
NM_001271100.2:c.796_797del	NP_001258029.1:p.Ala266CysfsTer?
NM_001362895.2:c.1087_1088del	NP_001349824.1:p.Ala363CysfsTer?
NM_001362896.2:c.1087_1088del	NP_001349825.1:p.Ala363CysfsTer?
NM_001362897.2:c.1036_1037del	NP_001349826.1:p.Ala346CysfsTer?
NM_014281.5:c.925_926del	NP_055096.2:p.Ala309CysfsTer?
NM_078480.3:c.976_977del MANE Select	NP_510965.1:p.Ala326CysfsTer?