Canonical Allele Identifier: CA916494336
Gene: DNMT3A HGNC NCBI

Linked Data

dbSNP Id: rs1558650945

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25234313_25234314del , CM000664.2:g.25234313_25234314del GRCh38
NC_000002.11:g.25457182_25457183del , CM000664.1:g.25457182_25457183del GRCh37
NC_000002.10:g.25310686_25310687del NCBI36
NG_029465.2:g.113277_113278del , LRG_459:g.113277_113278del

Transcript Alleles

HGVS Amino-acid Change
ENST00000474887.6:c.953_954del
ENST00000683393.1:c.1850_1851del ENSP00000508654.1:n.1850_1851del
ENST00000683760.1:c.2035_2036del ENSP00000507765.1:p.Phe679ArgfsTer18
ENST00000321117.10:c.2704_2705del MANE Select ENSP00000324375.5:p.Phe902ArgfsTer18
ENST00000264709.7:c.2704_2705del ENSP00000264709.3:p.Phe902ArgfsTer18
ENST00000321117.9:c.2704_2705del ENSP00000324375.5:p.Phe902ArgfsTer18
ENST00000380746.8:c.2137_2138del ENSP00000370122.4:p.Phe713ArgfsTer18
ENST00000380756.7:c.*557_*558del ENSP00000370132.3:n.*557_*558del
ENST00000402667.1:c.2035_2036del ENSP00000384237.1:p.Phe679ArgfsTer18
NM_022552.4:c.2704_2705del , LRG_459t1:c.2704_2705del NP_072046.2:p.Phe902ArgfsTer18
NM_153759.3:c.2137_2138del , LRG_459t2:c.2137_2138del NP_715640.2:p.Phe713ArgfsTer18
NM_175629.2:c.2704_2705del , LRG_459t4:c.2704_2705del NP_783328.1:p.Phe902ArgfsTer18
XM_005264175.3:c.2704_2705del XP_005264232.1:p.Phe902ArgfsTer18
XM_005264177.3:c.2035_2036del XP_005264234.1:p.Phe679ArgfsTer18
XM_006711958.2:c.2260_2261del XP_006712021.1:p.Phe754ArgfsTer18
XM_011532662.1:c.2557_2558del XP_011530964.1:p.Phe853ArgfsTer18
XM_011532663.1:c.2539_2540del XP_011530965.1:p.Phe847ArgfsTer18
XM_011532665.1:c.2248_2249del XP_011530967.1:p.Phe750ArgfsTer18
XM_011532666.1:c.2176_2177del XP_011530968.1:p.Phe726ArgfsTer18
XM_011532667.1:c.2035_2036del XP_011530969.1:p.Phe679ArgfsTer18
NM_001320893.1:c.2248_2249del NP_001307822.1:p.Phe750ArgfsTer18
NR_135490.1:n.3241_3242del
XM_005264175.5:c.2704_2705del XP_005264232.1:p.Phe902ArgfsTer18
XM_005264177.4:c.2035_2036del XP_005264234.1:p.Phe679ArgfsTer18
XM_011532662.2:c.2557_2558del XP_011530964.1:p.Phe853ArgfsTer18
XM_011532663.2:c.2539_2540del XP_011530965.1:p.Phe847ArgfsTer18
XM_011532666.2:c.2176_2177del XP_011530968.1:p.Phe726ArgfsTer18
XM_011532667.3:c.2035_2036del XP_011530969.1:p.Phe679ArgfsTer18
XM_017003526.1:c.2704_2705del XP_016859015.1:p.Phe902ArgfsTer18
XM_017003527.1:c.2035_2036del XP_016859016.1:p.Phe679ArgfsTer18
XR_001738657.1:n.2911_2912del
NM_001375819.1:c.2035_2036del NP_001362748.1:p.Phe679ArgfsTer18
NR_135490.2:n.3134_3135del
NM_022552.5:c.2704_2705del MANE Select NP_072046.2:p.Phe902ArgfsTer18