Canonical Allele Identifier: CA2573052253
Community Standard Title: NM_001080517.3(SETD5):c.2182del (p.Asp728IlefsTer9)
Gene: SETD5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.9448466del , CM000665.2:g.9448466del GRCh38
NC_000003.11:g.9490150del , CM000665.1:g.9490150del GRCh37
NC_000003.10:g.9465150del NCBI36
NG_034132.1:g.55767del

Transcript Alleles

HGVS Amino-acid Change
NM_001080517.3:c.2182del MANE Select NP_001073986.1:p.Asp728IlefsTer9
ENST00000402198.7:c.2182del MANE Select ENSP00000385852.2:p.Asp728IlefsTer9
NM_001080517.2:c.2182del NP_001073986.1:p.Asp728IlefsTer9
NM_001292043.1:c.1888del NP_001278972.1:p.Asp630IlefsTer9
NM_001292043.2:c.1888del NP_001278972.1:p.Asp630IlefsTer9
NM_001349451.1:c.1888del NP_001336380.1:p.Asp630IlefsTer9
NM_001349451.2:c.1888del NP_001336380.1:p.Asp630IlefsTer9
ENST00000302463.10:c.1888del ENSP00000302028.6:p.Asp630IlefsTer9
ENST00000399686.6:c.1184del
ENST00000402198.5:c.2182del ENSP00000385852.1:p.Asp728IlefsTer9
ENST00000406341.5:c.2182del ENSP00000383939.1:p.Asp728IlefsTer9
ENST00000407969.5:c.2239del ENSP00000384114.1:p.Asp747IlefsTer9
ENST00000413704.5:c.1218del
ENST00000421188.1:c.116del
ENST00000443339.5:c.*2442del ENSP00000393221.1:n.*2442del
ENST00000466242.5:n.1523del
ENST00000478961.6:c.79del ENSP00000506929.1:p.Asp27IlefsTer9
ENST00000488236.5:n.399del
ENST00000493918.5:n.2346del
ENST00000663774.1:c.*2328del ENSP00000499452.1:n.*2328del
ENST00000664993.1:n.79del
ENST00000665872.1:c.*2251del ENSP00000499600.1:n.*2251del
ENST00000666307.1:c.*2556del ENSP00000499402.1:n.*2556del
ENST00000670063.1:c.*2287del ENSP00000499725.1:n.*2287del
ENST00000682236.1:n.637del
ENST00000682536.1:c.2278del ENSP00000507956.1:p.Asp760IlefsTer9
ENST00000684055.1:c.2182del ENSP00000507953.1:p.Asp728IlefsTer9
ENST00000684606.1:c.*2677del ENSP00000506817.1:n.*2677del
ENST00000688835.1:n.3200del
ENST00000691175.1:n.3638del
ENST00000691925.1:n.3257del
ENST00000691988.1:n.1798del
ENST00000693430.1:n.3613del
XM_005265301.1:c.2239del XP_005265358.1:p.Asp747IlefsTer9
XM_005265303.1:c.2125del XP_005265360.1:p.Asp709IlefsTer9
XM_011533920.1:c.2299del XP_011532222.1:p.Asp767IlefsTer9
XM_011533921.1:c.2299del XP_011532223.1:p.Asp767IlefsTer9
XM_011533921.2:c.2299del XP_011532223.1:p.Asp767IlefsTer9
XM_011533922.1:c.2278del XP_011532224.1:p.Asp760IlefsTer9
XM_011533923.1:c.2278del XP_011532225.1:p.Asp760IlefsTer9
XM_011533924.1:c.2278del XP_011532226.1:p.Asp760IlefsTer9
XM_011533925.1:c.2260del XP_011532227.1:p.Asp754IlefsTer9
XM_011533926.1:c.2299del XP_011532228.1:p.Asp767IlefsTer9
XM_011533927.1:c.2242del XP_011532229.1:p.Asp748IlefsTer9
XM_011533928.1:c.2221del XP_011532230.1:p.Asp741IlefsTer9
XM_011533929.1:c.2260del XP_011532231.1:p.Asp754IlefsTer9
XM_011533930.1:c.2164del XP_011532232.1:p.Asp722IlefsTer9
XM_011533931.1:c.1888del XP_011532233.1:p.Asp630IlefsTer9
XM_011533932.1:c.1849del XP_011532234.1:p.Asp617IlefsTer9
XM_011533933.1:c.1849del XP_011532235.1:p.Asp617IlefsTer9
XM_011533934.1:c.2299del XP_011532236.1:p.Asp767IlefsTer9
XM_011533935.1:c.2299del XP_011532237.1:p.Asp767IlefsTer9
XM_011533936.1:c.2299del XP_011532238.1:p.Asp767IlefsTer9
XM_017006767.1:c.2299del XP_016862256.1:p.Asp767IlefsTer9
XM_017006768.2:c.2278del XP_016862257.1:p.Asp760IlefsTer9
XM_017006770.1:c.2299del XP_016862259.1:p.Asp767IlefsTer9
XM_017006771.1:c.2239del XP_016862260.1:p.Asp747IlefsTer9
XM_017006772.1:c.2260del XP_016862261.1:p.Asp754IlefsTer9
XM_017006773.1:c.2203del XP_016862262.1:p.Asp735IlefsTer9
XM_017006774.1:c.2182del XP_016862263.1:p.Asp728IlefsTer9
XM_017006775.1:c.2203del XP_016862264.1:p.Asp735IlefsTer9
XM_017006776.1:c.1888del XP_016862265.1:p.Asp630IlefsTer9
XM_017006777.1:c.1888del XP_016862266.1:p.Asp630IlefsTer9
XM_017006778.1:c.1888del XP_016862267.1:p.Asp630IlefsTer9
XM_017006779.1:c.1849del XP_016862268.1:p.Asp617IlefsTer9
XM_017006780.1:c.1849del XP_016862269.1:p.Asp617IlefsTer9
XM_017006782.1:c.2299del XP_016862271.1:p.Asp767IlefsTer9
XM_017006783.1:c.1621del XP_016862272.1:p.Asp541IlefsTer9
XM_017006784.1:c.2299del XP_016862273.1:p.Asp767IlefsTer9
XM_017006785.1:c.2299del XP_016862274.1:p.Asp767IlefsTer9
XM_017006786.1:c.2299del XP_016862275.1:p.Asp767IlefsTer9
XM_024453620.1:c.2260del XP_024309388.1:p.Asp754IlefsTer9
XM_024453621.1:c.1936del XP_024309389.1:p.Asp646IlefsTer9
XR_001740195.2:n.6468del