Canonical Allele Identifier: CA2576693896
Gene: DNMT3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25240327_25240331del , CM000664.2:g.25240327_25240331del GRCh38
NC_000002.11:g.25463196_25463200del , CM000664.1:g.25463196_25463200del GRCh37
NC_000002.10:g.25316700_25316704del NCBI36
NG_029465.2:g.107262_107266del , LRG_459:g.107262_107266del

Transcript Alleles

HGVS Amino-acid Change
ENST00000474887.6:c.614_618del
ENST00000683393.1:c.1441_1445del ENSP00000508654.1:n.1441_1445del
ENST00000683760.1:c.1626_1630del ENSP00000507765.1:p.Asp542GlufsTer15
ENST00000321117.10:c.2295_2299del MANE Select ENSP00000324375.5:p.Asp765GlufsTer15
ENST00000264709.7:c.2295_2299del ENSP00000264709.3:p.Asp765GlufsTer15
ENST00000321117.9:c.2295_2299del ENSP00000324375.5:p.Asp765GlufsTer15
ENST00000380746.8:c.1728_1732del ENSP00000370122.4:p.Asp576GlufsTer15
ENST00000380756.7:c.2295_2299del ENSP00000370132.3:p.Asp765GlufsTer12
ENST00000402667.1:c.1626_1630del ENSP00000384237.1:p.Asp542GlufsTer15
ENST00000461228.1:n.514_518del
ENST00000466601.5:n.667_671del
ENST00000474887.5:n.614_618del
ENST00000482935.5:n.295_299del
ENST00000491288.5:n.310+311_310+315del
NM_022552.4:c.2295_2299del , LRG_459t1:c.2295_2299del NP_072046.2:p.Asp765GlufsTer15
NM_153759.3:c.1728_1732del , LRG_459t2:c.1728_1732del NP_715640.2:p.Asp576GlufsTer15
NM_175629.2:c.2295_2299del , LRG_459t4:c.2295_2299del NP_783328.1:p.Asp765GlufsTer15
XM_005264175.3:c.2295_2299del XP_005264232.1:p.Asp765GlufsTer15
XM_005264177.3:c.1626_1630del XP_005264234.1:p.Asp542GlufsTer15
XM_006711957.2:c.2295_2299del XP_006712020.1:p.Asp765GlufsTer15
XM_006711958.2:c.1851_1855del XP_006712021.1:p.Asp617GlufsTer15
XM_011532662.1:c.2148_2152del XP_011530964.1:p.Asp716GlufsTer15
XM_011532663.1:c.2130_2134del XP_011530965.1:p.Asp710GlufsTer15
XM_011532664.1:c.2295_2299del XP_011530966.1:p.Asp765GlufsTer12
XM_011532665.1:c.1839_1843del XP_011530967.1:p.Asp613GlufsTer15
XM_011532666.1:c.1767_1771del XP_011530968.1:p.Asp589GlufsTer15
XM_011532667.1:c.1626_1630del XP_011530969.1:p.Asp542GlufsTer15
XM_011532668.1:c.2295_2299del XP_011530970.1:p.Asp765GlufsTer12
NM_001320893.1:c.1839_1843del NP_001307822.1:p.Asp613GlufsTer15
NR_135490.1:n.2633_2637del
XM_005264175.5:c.2295_2299del XP_005264232.1:p.Asp765GlufsTer15
XM_005264177.4:c.1626_1630del XP_005264234.1:p.Asp542GlufsTer15
XM_011532662.2:c.2148_2152del XP_011530964.1:p.Asp716GlufsTer15
XM_011532663.2:c.2130_2134del XP_011530965.1:p.Asp710GlufsTer15
XM_011532664.2:c.2295_2299del XP_011530966.1:p.Asp765GlufsTer12
XM_011532666.2:c.1767_1771del XP_011530968.1:p.Asp589GlufsTer15
XM_011532667.3:c.1626_1630del XP_011530969.1:p.Asp542GlufsTer15
XM_017003526.1:c.2295_2299del XP_016859015.1:p.Asp765GlufsTer15
XM_017003527.1:c.1626_1630del XP_016859016.1:p.Asp542GlufsTer15
XR_001738657.1:n.2572_2576del
NM_001375819.1:c.1626_1630del NP_001362748.1:p.Asp542GlufsTer15
NR_135490.2:n.2526_2530del
NM_022552.5:c.2295_2299del MANE Select NP_072046.2:p.Asp765GlufsTer15