Canonical Allele Identifier: CA645515170
Gene: DNMT3A HGNC NCBI

Linked Data

COSMIC: COSM130414

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25240348dup , CM000664.2:g.25240348dup GRCh38
NC_000002.11:g.25463217dup , CM000664.1:g.25463217dup GRCh37
NC_000002.10:g.25316721dup NCBI36
NG_029465.2:g.107243dup , LRG_459:g.107243dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000474887.6:c.595dup
ENST00000683393.1:c.1422dup ENSP00000508654.1:n.1422dup
ENST00000683760.1:c.1607dup ENSP00000507765.1:p.Ala537GlyfsTer5
ENST00000321117.10:c.2276dup MANE Select ENSP00000324375.5:p.Ala760GlyfsTer5
ENST00000264709.7:c.2276dup ENSP00000264709.3:p.Ala760GlyfsTer5
ENST00000321117.9:c.2276dup ENSP00000324375.5:p.Ala760GlyfsTer5
ENST00000380746.8:c.1709dup ENSP00000370122.4:p.Ala571GlyfsTer5
ENST00000380756.7:c.2276dup ENSP00000370132.3:p.Ala760GlyfsTer5
ENST00000402667.1:c.1607dup ENSP00000384237.1:p.Ala537GlyfsTer5
ENST00000461228.1:n.495dup
ENST00000466601.5:n.648dup
ENST00000474887.5:n.595dup
ENST00000482935.5:n.276dup
ENST00000491288.5:n.310+292dup
NM_022552.4:c.2276dup , LRG_459t1:c.2276dup NP_072046.2:p.Ala760GlyfsTer5
NM_153759.3:c.1709dup , LRG_459t2:c.1709dup NP_715640.2:p.Ala571GlyfsTer5
NM_175629.2:c.2276dup , LRG_459t4:c.2276dup NP_783328.1:p.Ala760GlyfsTer5
XM_005264175.3:c.2276dup XP_005264232.1:p.Ala760GlyfsTer5
XM_005264177.3:c.1607dup XP_005264234.1:p.Ala537GlyfsTer5
XM_006711957.2:c.2276dup XP_006712020.1:p.Ala760GlyfsTer5
XM_006711958.2:c.1832dup XP_006712021.1:p.Ala612GlyfsTer5
XM_011532662.1:c.2129dup XP_011530964.1:p.Ala711GlyfsTer5
XM_011532663.1:c.2111dup XP_011530965.1:p.Ala705GlyfsTer5
XM_011532664.1:c.2276dup XP_011530966.1:p.Ala760GlyfsTer5
XM_011532665.1:c.1820dup XP_011530967.1:p.Ala608GlyfsTer5
XM_011532666.1:c.1748dup XP_011530968.1:p.Ala584GlyfsTer5
XM_011532667.1:c.1607dup XP_011530969.1:p.Ala537GlyfsTer5
XM_011532668.1:c.2276dup XP_011530970.1:p.Ala760GlyfsTer5
NM_001320893.1:c.1820dup NP_001307822.1:p.Ala608GlyfsTer5
NR_135490.1:n.2614dup
XM_005264175.5:c.2276dup XP_005264232.1:p.Ala760GlyfsTer5
XM_005264177.4:c.1607dup XP_005264234.1:p.Ala537GlyfsTer5
XM_011532662.2:c.2129dup XP_011530964.1:p.Ala711GlyfsTer5
XM_011532663.2:c.2111dup XP_011530965.1:p.Ala705GlyfsTer5
XM_011532664.2:c.2276dup XP_011530966.1:p.Ala760GlyfsTer5
XM_011532666.2:c.1748dup XP_011530968.1:p.Ala584GlyfsTer5
XM_011532667.3:c.1607dup XP_011530969.1:p.Ala537GlyfsTer5
XM_017003526.1:c.2276dup XP_016859015.1:p.Ala760GlyfsTer5
XM_017003527.1:c.1607dup XP_016859016.1:p.Ala537GlyfsTer5
XR_001738657.1:n.2553dup
NM_001375819.1:c.1607dup NP_001362748.1:p.Ala537GlyfsTer5
NR_135490.2:n.2507dup
NM_022552.5:c.2276dup MANE Select NP_072046.2:p.Ala760GlyfsTer5