Canonical Allele Identifier: CA2658171658
Gene: DNMT3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25240304del , CM000664.2:g.25240304del GRCh38
NC_000002.11:g.25463173del , CM000664.1:g.25463173del GRCh37
NC_000002.10:g.25316677del NCBI36
NG_029465.2:g.107287del , LRG_459:g.107287del

Transcript Alleles

HGVS Amino-acid Change
ENST00000474887.6:c.639del
ENST00000683393.1:c.1466del ENSP00000508654.1:n.1466del
ENST00000683760.1:c.1651del ENSP00000507765.1:p.Glu551SerfsTer5
ENST00000321117.10:c.2320del MANE Select ENSP00000324375.5:p.Glu774SerfsTer5
ENST00000264709.7:c.2320del ENSP00000264709.3:p.Glu774SerfsTer5
ENST00000321117.9:c.2320del ENSP00000324375.5:p.Glu774SerfsTer5
ENST00000380746.8:c.1753del ENSP00000370122.4:p.Glu585SerfsTer5
ENST00000380756.7:c.2320del ENSP00000370132.3:p.Glu774ArgfsTer?
ENST00000402667.1:c.1651del ENSP00000384237.1:p.Glu551SerfsTer5
ENST00000461228.1:n.539del
ENST00000466601.5:n.692del
ENST00000474887.5:n.639del
ENST00000482935.5:n.320del
ENST00000491288.5:n.310+336del
NM_022552.4:c.2320del , LRG_459t1:c.2320del NP_072046.2:p.Glu774SerfsTer5
NM_153759.3:c.1753del , LRG_459t2:c.1753del NP_715640.2:p.Glu585SerfsTer5
NM_175629.2:c.2320del , LRG_459t4:c.2320del NP_783328.1:p.Glu774SerfsTer5
XM_005264175.3:c.2320del XP_005264232.1:p.Glu774SerfsTer5
XM_005264177.3:c.1651del XP_005264234.1:p.Glu551SerfsTer5
XM_006711957.2:c.2320del XP_006712020.1:p.Glu774SerfsTer5
XM_006711958.2:c.1876del XP_006712021.1:p.Glu626SerfsTer5
XM_011532662.1:c.2173del XP_011530964.1:p.Glu725SerfsTer5
XM_011532663.1:c.2155del XP_011530965.1:p.Glu719SerfsTer5
XM_011532664.1:c.2320del XP_011530966.1:p.Glu774ArgfsTer?
XM_011532665.1:c.1864del XP_011530967.1:p.Glu622SerfsTer5
XM_011532666.1:c.1792del XP_011530968.1:p.Glu598SerfsTer5
XM_011532667.1:c.1651del XP_011530969.1:p.Glu551SerfsTer5
XM_011532668.1:c.2320del XP_011530970.1:p.Glu774ArgfsTer?
NM_001320893.1:c.1864del NP_001307822.1:p.Glu622SerfsTer5
NR_135490.1:n.2658del
XM_005264175.5:c.2320del XP_005264232.1:p.Glu774SerfsTer5
XM_005264177.4:c.1651del XP_005264234.1:p.Glu551SerfsTer5
XM_011532662.2:c.2173del XP_011530964.1:p.Glu725SerfsTer5
XM_011532663.2:c.2155del XP_011530965.1:p.Glu719SerfsTer5
XM_011532664.2:c.2320del XP_011530966.1:p.Glu774ArgfsTer?
XM_011532666.2:c.1792del XP_011530968.1:p.Glu598SerfsTer5
XM_011532667.3:c.1651del XP_011530969.1:p.Glu551SerfsTer5
XM_017003526.1:c.2320del XP_016859015.1:p.Glu774SerfsTer5
XM_017003527.1:c.1651del XP_016859016.1:p.Glu551SerfsTer5
XR_001738657.1:n.2597del
NM_001375819.1:c.1651del NP_001362748.1:p.Glu551SerfsTer5
NR_135490.2:n.2551del
NM_022552.5:c.2320del MANE Select NP_072046.2:p.Glu774SerfsTer5