Canonical Allele Identifier: CA2838033017
Gene: DNMT3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25240327_25240349del , CM000664.2:g.25240327_25240349del GRCh38
NC_000002.11:g.25463196_25463218del , CM000664.1:g.25463196_25463218del GRCh37
NC_000002.10:g.25316700_25316722del NCBI36
NG_029465.2:g.107243_107265del , LRG_459:g.107243_107265del

Transcript Alleles

HGVS Amino-acid Change
ENST00000474887.6:c.595_617del
ENST00000683393.1:c.1422_1444del ENSP00000508654.1:n.1422_1444del
ENST00000683760.1:c.1607_1629del ENSP00000507765.1:p.Val536GlufsTer15
ENST00000321117.10:c.2276_2298del MANE Select ENSP00000324375.5:p.Val759GlufsTer15
ENST00000264709.7:c.2276_2298del ENSP00000264709.3:p.Val759GlufsTer15
ENST00000321117.9:c.2276_2298del ENSP00000324375.5:p.Val759GlufsTer15
ENST00000380746.8:c.1709_1731del ENSP00000370122.4:p.Val570GlufsTer15
ENST00000380756.7:c.2276_2298del ENSP00000370132.3:p.Val759GlufsTer12
ENST00000402667.1:c.1607_1629del ENSP00000384237.1:p.Val536GlufsTer15
ENST00000461228.1:n.495_517del
ENST00000466601.5:n.648_670del
ENST00000474887.5:n.595_617del
ENST00000482935.5:n.276_298del
ENST00000491288.5:n.310+292_310+314del
NM_022552.4:c.2276_2298del , LRG_459t1:c.2276_2298del NP_072046.2:p.Val759GlufsTer15
NM_153759.3:c.1709_1731del , LRG_459t2:c.1709_1731del NP_715640.2:p.Val570GlufsTer15
NM_175629.2:c.2276_2298del , LRG_459t4:c.2276_2298del NP_783328.1:p.Val759GlufsTer15
XM_005264175.3:c.2276_2298del XP_005264232.1:p.Val759GlufsTer15
XM_005264177.3:c.1607_1629del XP_005264234.1:p.Val536GlufsTer15
XM_006711957.2:c.2276_2298del XP_006712020.1:p.Val759GlufsTer15
XM_006711958.2:c.1832_1854del XP_006712021.1:p.Val611GlufsTer15
XM_011532662.1:c.2129_2151del XP_011530964.1:p.Val710GlufsTer15
XM_011532663.1:c.2111_2133del XP_011530965.1:p.Val704GlufsTer15
XM_011532664.1:c.2276_2298del XP_011530966.1:p.Val759GlufsTer12
XM_011532665.1:c.1820_1842del XP_011530967.1:p.Val607GlufsTer15
XM_011532666.1:c.1748_1770del XP_011530968.1:p.Val583GlufsTer15
XM_011532667.1:c.1607_1629del XP_011530969.1:p.Val536GlufsTer15
XM_011532668.1:c.2276_2298del XP_011530970.1:p.Val759GlufsTer12
NM_001320893.1:c.1820_1842del NP_001307822.1:p.Val607GlufsTer15
NR_135490.1:n.2614_2636del
XM_005264175.5:c.2276_2298del XP_005264232.1:p.Val759GlufsTer15
XM_005264177.4:c.1607_1629del XP_005264234.1:p.Val536GlufsTer15
XM_011532662.2:c.2129_2151del XP_011530964.1:p.Val710GlufsTer15
XM_011532663.2:c.2111_2133del XP_011530965.1:p.Val704GlufsTer15
XM_011532664.2:c.2276_2298del XP_011530966.1:p.Val759GlufsTer12
XM_011532666.2:c.1748_1770del XP_011530968.1:p.Val583GlufsTer15
XM_011532667.3:c.1607_1629del XP_011530969.1:p.Val536GlufsTer15
XM_017003526.1:c.2276_2298del XP_016859015.1:p.Val759GlufsTer15
XM_017003527.1:c.1607_1629del XP_016859016.1:p.Val536GlufsTer15
XR_001738657.1:n.2553_2575del
NM_001375819.1:c.1607_1629del NP_001362748.1:p.Val536GlufsTer15
NR_135490.2:n.2507_2529del
NM_022552.5:c.2276_2298del MANE Select NP_072046.2:p.Val759GlufsTer15