Canonical Allele Identifier: CA1239260249
Gene: DNMT3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25234304_25234305delinsAG , CM000664.2:g.25234304_25234305delinsAG GRCh38
NC_000002.11:g.25457173_25457174delinsAG , CM000664.1:g.25457173_25457174delinsAG GRCh37
NC_000002.10:g.25310677_25310678delinsAG NCBI36
NG_029465.2:g.113286_113287delinsCT , LRG_459:g.113286_113287delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000474887.6:c.962_963delinsCT
ENST00000683393.1:c.1859_1860delinsCT ENSP00000508654.1:n.1859_1860delinsCT
ENST00000683760.1:c.2044_2045delinsCT ENSP00000507765.1:p.Leu682=
ENST00000321117.10:c.2713_2714delinsCT MANE Select ENSP00000324375.5:p.Leu905=
ENST00000264709.7:c.2713_2714delinsCT ENSP00000264709.3:p.Leu905=
ENST00000321117.9:c.2713_2714delinsCT ENSP00000324375.5:p.Leu905=
ENST00000380746.8:c.2146_2147delinsCT ENSP00000370122.4:p.Leu716=
ENST00000380756.7:c.*566_*567delinsCT ENSP00000370132.3:n.*566_*567delinsCT
ENST00000402667.1:c.2044_2045delinsCT ENSP00000384237.1:p.Leu682=
NM_022552.4:c.2713_2714delinsCT , LRG_459t1:c.2713_2714delinsCT NP_072046.2:p.Leu905=
NM_153759.3:c.2146_2147delinsCT , LRG_459t2:c.2146_2147delinsCT NP_715640.2:p.Leu716=
NM_175629.2:c.2713_2714delinsCT , LRG_459t4:c.2713_2714delinsCT NP_783328.1:p.Leu905=
XM_005264175.3:c.2713_2714delinsCT XP_005264232.1:p.Leu905=
XM_005264177.3:c.2044_2045delinsCT XP_005264234.1:p.Leu682=
XM_006711958.2:c.2269_2270delinsCT XP_006712021.1:p.Leu757=
XM_011532662.1:c.2566_2567delinsCT XP_011530964.1:p.Leu856=
XM_011532663.1:c.2548_2549delinsCT XP_011530965.1:p.Leu850=
XM_011532665.1:c.2257_2258delinsCT XP_011530967.1:p.Leu753=
XM_011532666.1:c.2185_2186delinsCT XP_011530968.1:p.Leu729=
XM_011532667.1:c.2044_2045delinsCT XP_011530969.1:p.Leu682=
NM_001320893.1:c.2257_2258delinsCT NP_001307822.1:p.Leu753=
NR_135490.1:n.3250_3251delinsCT
XM_005264175.5:c.2713_2714delinsCT XP_005264232.1:p.Leu905=
XM_005264177.4:c.2044_2045delinsCT XP_005264234.1:p.Leu682=
XM_011532662.2:c.2566_2567delinsCT XP_011530964.1:p.Leu856=
XM_011532663.2:c.2548_2549delinsCT XP_011530965.1:p.Leu850=
XM_011532666.2:c.2185_2186delinsCT XP_011530968.1:p.Leu729=
XM_011532667.3:c.2044_2045delinsCT XP_011530969.1:p.Leu682=
XM_017003526.1:c.2713_2714delinsCT XP_016859015.1:p.Leu905=
XM_017003527.1:c.2044_2045delinsCT XP_016859016.1:p.Leu682=
XR_001738657.1:n.2920_2921delinsCT
NM_001375819.1:c.2044_2045delinsCT NP_001362748.1:p.Leu682=
NR_135490.2:n.3143_3144delinsCT
NM_022552.5:c.2713_2714delinsCT MANE Select NP_072046.2:p.Leu905=