Canonical Allele Identifier: CA2573051230
Gene: DNMT3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25244233_25244240del , CM000664.2:g.25244233_25244240del GRCh38
NC_000002.11:g.25467102_25467109del , CM000664.1:g.25467102_25467109del GRCh37
NC_000002.10:g.25320606_25320613del NCBI36
NG_029465.2:g.103351_103358del , LRG_459:g.103351_103358del

Transcript Alleles

HGVS Amino-acid Change
ENST00000474887.6:c.85_92del
ENST00000683393.1:c.912_919del ENSP00000508654.1:n.912_919del
ENST00000683760.1:c.1097_1104del ENSP00000507765.1:p.Lys366IlefsTer20
ENST00000321117.10:c.1766_1773del MANE Select ENSP00000324375.5:p.Lys589IlefsTer20
ENST00000264709.7:c.1766_1773del ENSP00000264709.3:p.Lys589IlefsTer20
ENST00000321117.9:c.1766_1773del ENSP00000324375.5:p.Lys589IlefsTer20
ENST00000380746.8:c.1199_1206del ENSP00000370122.4:p.Lys400IlefsTer20
ENST00000380756.7:c.1766_1773del ENSP00000370132.3:p.Lys589IlefsTer20
ENST00000402667.1:c.1097_1104del ENSP00000384237.1:p.Lys366IlefsTer20
ENST00000474887.5:n.85_92del
NM_022552.4:c.1766_1773del , LRG_459t1:c.1766_1773del NP_072046.2:p.Lys589IlefsTer20
NM_153759.3:c.1199_1206del , LRG_459t2:c.1199_1206del NP_715640.2:p.Lys400IlefsTer20
NM_175629.2:c.1766_1773del , LRG_459t4:c.1766_1773del NP_783328.1:p.Lys589IlefsTer20
XM_005264175.3:c.1766_1773del XP_005264232.1:p.Lys589IlefsTer20
XM_005264177.3:c.1097_1104del XP_005264234.1:p.Lys366IlefsTer20
XM_006711957.2:c.1766_1773del XP_006712020.1:p.Lys589IlefsTer20
XM_006711958.2:c.1322_1329del XP_006712021.1:p.Lys441IlefsTer20
XM_011532662.1:c.1619_1626del XP_011530964.1:p.Lys540IlefsTer20
XM_011532663.1:c.1601_1608del XP_011530965.1:p.Lys534IlefsTer20
XM_011532664.1:c.1766_1773del XP_011530966.1:p.Lys589IlefsTer20
XM_011532665.1:c.1310_1317del XP_011530967.1:p.Lys437IlefsTer20
XM_011532666.1:c.1238_1245del XP_011530968.1:p.Lys413IlefsTer20
XM_011532667.1:c.1097_1104del XP_011530969.1:p.Lys366IlefsTer20
XM_011532668.1:c.1766_1773del XP_011530970.1:p.Lys589IlefsTer20
NM_001320893.1:c.1310_1317del NP_001307822.1:p.Lys437IlefsTer20
NR_135490.1:n.2104_2111del
XM_005264175.5:c.1766_1773del XP_005264232.1:p.Lys589IlefsTer20
XM_005264177.4:c.1097_1104del XP_005264234.1:p.Lys366IlefsTer20
XM_011532662.2:c.1619_1626del XP_011530964.1:p.Lys540IlefsTer20
XM_011532663.2:c.1601_1608del XP_011530965.1:p.Lys534IlefsTer20
XM_011532664.2:c.1766_1773del XP_011530966.1:p.Lys589IlefsTer20
XM_011532666.2:c.1238_1245del XP_011530968.1:p.Lys413IlefsTer20
XM_011532667.3:c.1097_1104del XP_011530969.1:p.Lys366IlefsTer20
XM_017003526.1:c.1766_1773del XP_016859015.1:p.Lys589IlefsTer20
XM_017003527.1:c.1097_1104del XP_016859016.1:p.Lys366IlefsTer20
XR_001738657.1:n.2043_2050del
NM_001375819.1:c.1097_1104del NP_001362748.1:p.Lys366IlefsTer20
NR_135490.2:n.1997_2004del
NM_022552.5:c.1766_1773del MANE Select NP_072046.2:p.Lys589IlefsTer20