Canonical Allele Identifier: CA645526495
Gene: SETD5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9475564_9475565del , CM000665.2:g.9475564_9475565del GRCh38
NC_000003.11:g.9517248_9517249del , CM000665.1:g.9517248_9517249del GRCh37
NC_000003.10:g.9492248_9492249del NCBI36
NG_034132.1:g.82865_82866del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682236.1:n.2757_2758del
ENST00000682536.1:c.3898_3899del ENSP00000507956.1:p.Gln1300ValfsTer?
ENST00000687014.1:n.4791_4792del
ENST00000689167.1:n.2182_2183del
ENST00000691925.1:n.6599_6600del
ENST00000693430.1:n.6044_6045del
ENST00000402198.7:c.3802_3803del MANE Select ENSP00000385852.2:p.Gln1268ValfsTer?
ENST00000663774.1:c.*3948_*3949del ENSP00000499452.1:n.*3948_*3949del
ENST00000665872.1:c.*3871_*3872del ENSP00000499600.1:n.*3871_*3872del
ENST00000666307.1:c.*4176_*4177del ENSP00000499402.1:n.*4176_*4177del
ENST00000670063.1:c.*3907_*3908del ENSP00000499725.1:n.*3907_*3908del
ENST00000302463.10:c.3508_3509del ENSP00000302028.6:p.Gln1170ValfsTer?
ENST00000399686.6:c.2722+408_2722+409del
ENST00000402198.5:c.3802_3803del ENSP00000385852.1:p.Gln1268ValfsTer?
ENST00000406341.5:c.3802_3803del ENSP00000383939.1:p.Gln1268ValfsTer?
ENST00000407969.5:c.3859_3860del ENSP00000384114.1:p.Gln1287ValfsTer?
ENST00000413704.5:c.2838_2839del
ENST00000459941.1:n.933_934del
ENST00000466242.5:n.3143_3144del
ENST00000466826.1:n.189_190del
ENST00000493918.5:n.3966_3967del
NM_001080517.2:c.3802_3803del NP_001073986.1:p.Gln1268ValfsTer?
NM_001292043.1:c.3508_3509del NP_001278972.1:p.Gln1170ValfsTer?
XM_005265301.1:c.3859_3860del XP_005265358.1:p.Gln1287ValfsTer?
XM_005265303.1:c.3802_3803del XP_005265360.1:p.Gln1268ValfsTer?
XM_011533920.1:c.3976_3977del XP_011532222.1:p.Gln1326ValfsTer?
XM_011533921.1:c.3976_3977del XP_011532223.1:p.Gln1326ValfsTer?
XM_011533922.1:c.3955_3956del XP_011532224.1:p.Gln1319ValfsTer?
XM_011533923.1:c.3955_3956del XP_011532225.1:p.Gln1319ValfsTer?
XM_011533924.1:c.3955_3956del XP_011532226.1:p.Gln1319ValfsTer?
XM_011533925.1:c.3937_3938del XP_011532227.1:p.Gln1313ValfsTer?
XM_011533926.1:c.3919_3920del XP_011532228.1:p.Gln1307ValfsTer?
XM_011533927.1:c.3919_3920del XP_011532229.1:p.Gln1307ValfsTer?
XM_011533928.1:c.3898_3899del XP_011532230.1:p.Gln1300ValfsTer?
XM_011533929.1:c.3880_3881del XP_011532231.1:p.Gln1294ValfsTer?
XM_011533930.1:c.3841_3842del XP_011532232.1:p.Gln1281ValfsTer?
XM_011533931.1:c.3565_3566del XP_011532233.1:p.Gln1189ValfsTer?
XM_011533932.1:c.3526_3527del XP_011532234.1:p.Gln1176ValfsTer?
XM_011533933.1:c.3526_3527del XP_011532235.1:p.Gln1176ValfsTer?
NM_001349451.1:c.3508_3509del NP_001336380.1:p.Gln1170ValfsTer?
XM_011533921.2:c.3976_3977del XP_011532223.1:p.Gln1326ValfsTer?
XM_017006767.1:c.3976_3977del XP_016862256.1:p.Gln1326ValfsTer?
XM_017006768.2:c.3955_3956del XP_016862257.1:p.Gln1319ValfsTer?
XM_017006770.1:c.3919_3920del XP_016862259.1:p.Gln1307ValfsTer?
XM_017006771.1:c.3916_3917del XP_016862260.1:p.Gln1306ValfsTer?
XM_017006772.1:c.3880_3881del XP_016862261.1:p.Gln1294ValfsTer?
XM_017006773.1:c.3880_3881del XP_016862262.1:p.Gln1294ValfsTer?
XM_017006774.1:c.3859_3860del XP_016862263.1:p.Gln1287ValfsTer?
XM_017006775.1:c.3823_3824del XP_016862264.1:p.Gln1275ValfsTer?
XM_017006776.1:c.3565_3566del XP_016862265.1:p.Gln1189ValfsTer?
XM_017006777.1:c.3565_3566del XP_016862266.1:p.Gln1189ValfsTer?
XM_017006778.1:c.3565_3566del XP_016862267.1:p.Gln1189ValfsTer?
XM_017006779.1:c.3526_3527del XP_016862268.1:p.Gln1176ValfsTer?
XM_017006780.1:c.3526_3527del XP_016862269.1:p.Gln1176ValfsTer?
XM_017006783.1:c.3298_3299del XP_016862272.1:p.Gln1100ValfsTer?
XM_024453620.1:c.3937_3938del XP_024309388.1:p.Gln1313ValfsTer?
XM_024453621.1:c.3613_3614del XP_024309389.1:p.Gln1205ValfsTer?
XR_001740195.2:n.8185_8186del
NM_001080517.3:c.3802_3803del MANE Select NP_001073986.1:p.Gln1268ValfsTer?
NM_001292043.2:c.3508_3509del NP_001278972.1:p.Gln1170ValfsTer?
NM_001349451.2:c.3508_3509del NP_001336380.1:p.Gln1170ValfsTer?