Canonical Allele Identifier: CA2576693597
Gene: DNMT3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25234392_25234395del , CM000664.2:g.25234392_25234395del GRCh38
NC_000002.11:g.25457261_25457264del , CM000664.1:g.25457261_25457264del GRCh37
NC_000002.10:g.25310765_25310768del NCBI36
NG_029465.2:g.113198_113201del , LRG_459:g.113198_113201del

Transcript Alleles

HGVS Amino-acid Change
ENST00000474887.6:c.874_877del
ENST00000683393.1:c.1771_1774del ENSP00000508654.1:n.1771_1774del
ENST00000683760.1:c.1956_1959del ENSP00000507765.1:p.Asp653SerfsTer4
ENST00000321117.10:c.2625_2628del MANE Select ENSP00000324375.5:p.Asp876SerfsTer4
ENST00000264709.7:c.2625_2628del ENSP00000264709.3:p.Asp876SerfsTer4
ENST00000321117.9:c.2625_2628del ENSP00000324375.5:p.Asp876SerfsTer4
ENST00000380746.8:c.2058_2061del ENSP00000370122.4:p.Asp687SerfsTer4
ENST00000380756.7:c.*478_*481del ENSP00000370132.3:n.*478_*481del
ENST00000402667.1:c.1956_1959del ENSP00000384237.1:p.Asp653SerfsTer4
NM_022552.4:c.2625_2628del , LRG_459t1:c.2625_2628del NP_072046.2:p.Asp876SerfsTer4
NM_153759.3:c.2058_2061del , LRG_459t2:c.2058_2061del NP_715640.2:p.Asp687SerfsTer4
NM_175629.2:c.2625_2628del , LRG_459t4:c.2625_2628del NP_783328.1:p.Asp876SerfsTer4
XM_005264175.3:c.2625_2628del XP_005264232.1:p.Asp876SerfsTer4
XM_005264177.3:c.1956_1959del XP_005264234.1:p.Asp653SerfsTer4
XM_006711958.2:c.2181_2184del XP_006712021.1:p.Asp728SerfsTer4
XM_011532662.1:c.2478_2481del XP_011530964.1:p.Asp827SerfsTer4
XM_011532663.1:c.2460_2463del XP_011530965.1:p.Asp821SerfsTer4
XM_011532665.1:c.2169_2172del XP_011530967.1:p.Asp724SerfsTer4
XM_011532666.1:c.2097_2100del XP_011530968.1:p.Asp700SerfsTer4
XM_011532667.1:c.1956_1959del XP_011530969.1:p.Asp653SerfsTer4
NM_001320893.1:c.2169_2172del NP_001307822.1:p.Asp724SerfsTer4
NR_135490.1:n.3162_3165del
XM_005264175.5:c.2625_2628del XP_005264232.1:p.Asp876SerfsTer4
XM_005264177.4:c.1956_1959del XP_005264234.1:p.Asp653SerfsTer4
XM_011532662.2:c.2478_2481del XP_011530964.1:p.Asp827SerfsTer4
XM_011532663.2:c.2460_2463del XP_011530965.1:p.Asp821SerfsTer4
XM_011532666.2:c.2097_2100del XP_011530968.1:p.Asp700SerfsTer4
XM_011532667.3:c.1956_1959del XP_011530969.1:p.Asp653SerfsTer4
XM_017003526.1:c.2625_2628del XP_016859015.1:p.Asp876SerfsTer4
XM_017003527.1:c.1956_1959del XP_016859016.1:p.Asp653SerfsTer4
XR_001738657.1:n.2832_2835del
NM_001375819.1:c.1956_1959del NP_001362748.1:p.Asp653SerfsTer4
NR_135490.2:n.3055_3058del
NM_022552.5:c.2625_2628del MANE Select NP_072046.2:p.Asp876SerfsTer4