Canonical Allele Identifier: CA2576694358
Gene: DNMT3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25244328_25244331del , CM000664.2:g.25244328_25244331del GRCh38
NC_000002.11:g.25467197_25467200del , CM000664.1:g.25467197_25467200del GRCh37
NC_000002.10:g.25320701_25320704del NCBI36
NG_029465.2:g.103262_103265del , LRG_459:g.103262_103265del

Transcript Alleles

HGVS Amino-acid change
ENST00000683393.1:c.823_826del ENSP00000508654.1:n.823_826del
ENST00000683760.1:c.1008_1011del ENSP00000507765.1:p.Cys336TrpfsTer?
ENST00000321117.10:c.1677_1680del MANE Select ENSP00000324375.5:p.Cys559TrpfsTer?
ENST00000264709.7:c.1677_1680del ENSP00000264709.3:p.Cys559TrpfsTer?
ENST00000321117.9:c.1677_1680del ENSP00000324375.5:p.Cys559TrpfsTer?
ENST00000380746.8:c.1110_1113del ENSP00000370122.4:p.Cys370TrpfsTer?
ENST00000380756.7:c.1677_1680del ENSP00000370132.3:p.Cys559TrpfsTer?
ENST00000402667.1:c.1008_1011del ENSP00000384237.1:p.Cys336TrpfsTer?
NM_022552.4:c.1677_1680del , LRG_459t1:c.1677_1680del NP_072046.2:p.Cys559TrpfsTer?
NM_153759.3:c.1110_1113del , LRG_459t2:c.1110_1113del NP_715640.2:p.Cys370TrpfsTer?
NM_175629.2:c.1677_1680del , LRG_459t4:c.1677_1680del NP_783328.1:p.Cys559TrpfsTer?
XM_005264175.3:c.1677_1680del XP_005264232.1:p.Cys559TrpfsTer?
XM_005264177.3:c.1008_1011del XP_005264234.1:p.Cys336TrpfsTer?
XM_006711957.2:c.1677_1680del XP_006712020.1:p.Cys559TrpfsTer?
XM_006711958.2:c.1233_1236del XP_006712021.1:p.Cys411TrpfsTer?
XM_011532662.1:c.1530_1533del XP_011530964.1:p.Cys510TrpfsTer?
XM_011532663.1:c.1512_1515del XP_011530965.1:p.Cys504TrpfsTer?
XM_011532664.1:c.1677_1680del XP_011530966.1:p.Cys559TrpfsTer?
XM_011532665.1:c.1221_1224del XP_011530967.1:p.Cys407TrpfsTer?
XM_011532666.1:c.1149_1152del XP_011530968.1:p.Cys383TrpfsTer?
XM_011532667.1:c.1008_1011del XP_011530969.1:p.Cys336TrpfsTer?
XM_011532668.1:c.1677_1680del XP_011530970.1:p.Cys559TrpfsTer?
NM_001320893.1:c.1221_1224del NP_001307822.1:p.Cys407TrpfsTer?
NR_135490.1:n.2015_2018del
XM_005264175.5:c.1677_1680del XP_005264232.1:p.Cys559TrpfsTer?
XM_005264177.4:c.1008_1011del XP_005264234.1:p.Cys336TrpfsTer?
XM_011532662.2:c.1530_1533del XP_011530964.1:p.Cys510TrpfsTer?
XM_011532663.2:c.1512_1515del XP_011530965.1:p.Cys504TrpfsTer?
XM_011532664.2:c.1677_1680del XP_011530966.1:p.Cys559TrpfsTer?
XM_011532666.2:c.1149_1152del XP_011530968.1:p.Cys383TrpfsTer?
XM_011532667.3:c.1008_1011del XP_011530969.1:p.Cys336TrpfsTer?
XM_017003526.1:c.1677_1680del XP_016859015.1:p.Cys559TrpfsTer?
XM_017003527.1:c.1008_1011del XP_016859016.1:p.Cys336TrpfsTer?
XR_001738657.1:n.1954_1957del
NM_001375819.1:c.1008_1011del NP_001362748.1:p.Cys336TrpfsTer?
NR_135490.2:n.1908_1911del
NM_022552.5:c.1677_1680del MANE Select NP_072046.2:p.Cys559TrpfsTer?