Canonical Allele Identifier: CA2577498752
Gene: SETD5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9475696del , CM000665.2:g.9475696del GRCh38
NC_000003.11:g.9517380del , CM000665.1:g.9517380del GRCh37
NC_000003.10:g.9492380del NCBI36
NG_034132.1:g.82997del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682236.1:n.2889del
ENST00000682536.1:c.4030del ENSP00000507956.1:p.Ala1344ProfsTer?
ENST00000687014.1:n.4923del
ENST00000689167.1:n.2314del
ENST00000693430.1:n.6176del
ENST00000402198.7:c.3934del MANE Select ENSP00000385852.2:p.Ala1312ProfsTer?
ENST00000663774.1:c.*4080del ENSP00000499452.1:n.*4080del
ENST00000665872.1:c.*4003del ENSP00000499600.1:n.*4003del
ENST00000666307.1:c.*4308del ENSP00000499402.1:n.*4308del
ENST00000670063.1:c.*4039del ENSP00000499725.1:n.*4039del
ENST00000302463.10:c.3640del ENSP00000302028.6:p.Ala1214ProfsTer?
ENST00000399686.6:c.2722+540del
ENST00000402198.5:c.3934del ENSP00000385852.1:p.Ala1312ProfsTer?
ENST00000406341.5:c.3934del ENSP00000383939.1:p.Ala1312ProfsTer?
ENST00000407969.5:c.3991del ENSP00000384114.1:p.Ala1331ProfsTer?
ENST00000413704.5:c.2970del
ENST00000459941.1:n.1065del
ENST00000466242.5:n.3275del
ENST00000493918.5:n.4098del
NM_001080517.2:c.3934del NP_001073986.1:p.Ala1312ProfsTer?
NM_001292043.1:c.3640del NP_001278972.1:p.Ala1214ProfsTer?
XM_005265301.1:c.3991del XP_005265358.1:p.Ala1331ProfsTer?
XM_005265303.1:c.3934del XP_005265360.1:p.Ala1312ProfsTer?
XM_011533920.1:c.4108del XP_011532222.1:p.Ala1370ProfsTer?
XM_011533921.1:c.4108del XP_011532223.1:p.Ala1370ProfsTer?
XM_011533922.1:c.4087del XP_011532224.1:p.Ala1363ProfsTer?
XM_011533923.1:c.4087del XP_011532225.1:p.Ala1363ProfsTer?
XM_011533924.1:c.4087del XP_011532226.1:p.Ala1363ProfsTer?
XM_011533925.1:c.4069del XP_011532227.1:p.Ala1357ProfsTer?
XM_011533926.1:c.4051del XP_011532228.1:p.Ala1351ProfsTer?
XM_011533927.1:c.4051del XP_011532229.1:p.Ala1351ProfsTer?
XM_011533928.1:c.4030del XP_011532230.1:p.Ala1344ProfsTer?
XM_011533929.1:c.4012del XP_011532231.1:p.Ala1338ProfsTer?
XM_011533930.1:c.3973del XP_011532232.1:p.Ala1325ProfsTer?
XM_011533931.1:c.3697del XP_011532233.1:p.Ala1233ProfsTer?
XM_011533932.1:c.3658del XP_011532234.1:p.Ala1220ProfsTer?
XM_011533933.1:c.3658del XP_011532235.1:p.Ala1220ProfsTer?
NM_001349451.1:c.3640del NP_001336380.1:p.Ala1214ProfsTer?
XM_011533921.2:c.4108del XP_011532223.1:p.Ala1370ProfsTer?
XM_017006767.1:c.4108del XP_016862256.1:p.Ala1370ProfsTer?
XM_017006768.2:c.4087del XP_016862257.1:p.Ala1363ProfsTer?
XM_017006770.1:c.4051del XP_016862259.1:p.Ala1351ProfsTer?
XM_017006771.1:c.4048del XP_016862260.1:p.Ala1350ProfsTer?
XM_017006772.1:c.4012del XP_016862261.1:p.Ala1338ProfsTer?
XM_017006773.1:c.4012del XP_016862262.1:p.Ala1338ProfsTer?
XM_017006774.1:c.3991del XP_016862263.1:p.Ala1331ProfsTer?
XM_017006775.1:c.3955del XP_016862264.1:p.Ala1319ProfsTer?
XM_017006776.1:c.3697del XP_016862265.1:p.Ala1233ProfsTer?
XM_017006777.1:c.3697del XP_016862266.1:p.Ala1233ProfsTer?
XM_017006778.1:c.3697del XP_016862267.1:p.Ala1233ProfsTer?
XM_017006779.1:c.3658del XP_016862268.1:p.Ala1220ProfsTer?
XM_017006780.1:c.3658del XP_016862269.1:p.Ala1220ProfsTer?
XM_017006783.1:c.3430del XP_016862272.1:p.Ala1144ProfsTer?
XM_024453620.1:c.4069del XP_024309388.1:p.Ala1357ProfsTer?
XM_024453621.1:c.3745del XP_024309389.1:p.Ala1249ProfsTer?
XR_001740195.2:n.8317del
NM_001080517.3:c.3934del MANE Select NP_001073986.1:p.Ala1312ProfsTer?
NM_001292043.2:c.3640del NP_001278972.1:p.Ala1214ProfsTer?
NM_001349451.2:c.3640del NP_001336380.1:p.Ala1214ProfsTer?