Canonical Allele Identifier: CA2950621531
Gene: DNMT3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25234316dup , CM000664.2:g.25234316dup GRCh38
NC_000002.11:g.25457185dup , CM000664.1:g.25457185dup GRCh37
NC_000002.10:g.25310689dup NCBI36
NG_029465.2:g.113275dup , LRG_459:g.113275dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000474887.6:c.951dup
ENST00000683393.1:c.1848dup ENSP00000508654.1:n.1848dup
ENST00000683760.1:c.2033dup ENSP00000507765.1:p.Phe679LeufsTer19
ENST00000321117.10:c.2702dup MANE Select ENSP00000324375.5:p.Phe902LeufsTer19
ENST00000264709.7:c.2702dup ENSP00000264709.3:p.Phe902LeufsTer19
ENST00000321117.9:c.2702dup ENSP00000324375.5:p.Phe902LeufsTer19
ENST00000380746.8:c.2135dup ENSP00000370122.4:p.Phe713LeufsTer19
ENST00000380756.7:c.*555dup ENSP00000370132.3:n.*555dup
ENST00000402667.1:c.2033dup ENSP00000384237.1:p.Phe679LeufsTer19
NM_022552.4:c.2702dup , LRG_459t1:c.2702dup NP_072046.2:p.Phe902LeufsTer19
NM_153759.3:c.2135dup , LRG_459t2:c.2135dup NP_715640.2:p.Phe713LeufsTer19
NM_175629.2:c.2702dup , LRG_459t4:c.2702dup NP_783328.1:p.Phe902LeufsTer19
XM_005264175.3:c.2702dup XP_005264232.1:p.Phe902LeufsTer19
XM_005264177.3:c.2033dup XP_005264234.1:p.Phe679LeufsTer19
XM_006711958.2:c.2258dup XP_006712021.1:p.Phe754LeufsTer19
XM_011532662.1:c.2555dup XP_011530964.1:p.Phe853LeufsTer19
XM_011532663.1:c.2537dup XP_011530965.1:p.Phe847LeufsTer19
XM_011532665.1:c.2246dup XP_011530967.1:p.Phe750LeufsTer19
XM_011532666.1:c.2174dup XP_011530968.1:p.Phe726LeufsTer19
XM_011532667.1:c.2033dup XP_011530969.1:p.Phe679LeufsTer19
NM_001320893.1:c.2246dup NP_001307822.1:p.Phe750LeufsTer19
NR_135490.1:n.3239dup
XM_005264175.5:c.2702dup XP_005264232.1:p.Phe902LeufsTer19
XM_005264177.4:c.2033dup XP_005264234.1:p.Phe679LeufsTer19
XM_011532662.2:c.2555dup XP_011530964.1:p.Phe853LeufsTer19
XM_011532663.2:c.2537dup XP_011530965.1:p.Phe847LeufsTer19
XM_011532666.2:c.2174dup XP_011530968.1:p.Phe726LeufsTer19
XM_011532667.3:c.2033dup XP_011530969.1:p.Phe679LeufsTer19
XM_017003526.1:c.2702dup XP_016859015.1:p.Phe902LeufsTer19
XM_017003527.1:c.2033dup XP_016859016.1:p.Phe679LeufsTer19
XR_001738657.1:n.2909dup
NM_001375819.1:c.2033dup NP_001362748.1:p.Phe679LeufsTer19
NR_135490.2:n.3132dup
NM_022552.5:c.2702dup MANE Select NP_072046.2:p.Phe902LeufsTer19