Canonical Allele Identifier: CA1239265765
Gene: DNMT3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25246641_25246649delinsTAGGGCCAG , CM000664.2:g.25246641_25246649delinsTAGGGCCAG GRCh38
NC_000002.11:g.25469510_25469518delinsTAGGGCCAG , CM000664.1:g.25469510_25469518delinsTAGGGCCAG GRCh37
NC_000002.10:g.25323014_25323022delinsTAGGGCCAG NCBI36
NG_029465.2:g.100942_100950delinsCTGGCCCTA , LRG_459:g.100942_100950delinsCTGGCCCTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000683393.1:c.396_404delinsCTGGCCCTA ENSP00000508654.1:n.396_404delinsCTGGCCCTA
ENST00000683760.1:c.581_589delinsCTGGCCCTA ENSP00000507765.1:p.Ser194=
ENST00000321117.10:c.1250_1258delinsCTGGCCCTA MANE Select ENSP00000324375.5:p.Ser417=
ENST00000264709.7:c.1250_1258delinsCTGGCCCTA ENSP00000264709.3:p.Ser417=
ENST00000321117.9:c.1250_1258delinsCTGGCCCTA ENSP00000324375.5:p.Ser417=
ENST00000380746.8:c.683_691delinsCTGGCCCTA ENSP00000370122.4:p.Ser228=
ENST00000380756.7:c.1250_1258delinsCTGGCCCTA ENSP00000370132.3:p.Ser417=
ENST00000402667.1:c.581_589delinsCTGGCCCTA ENSP00000384237.1:p.Ser194=
ENST00000474807.5:n.545_553delinsCTGGCCCTA
NM_022552.4:c.1250_1258delinsCTGGCCCTA , LRG_459t1:c.1250_1258delinsCTGGCCCTA NP_072046.2:p.Ser417=
NM_153759.3:c.683_691delinsCTGGCCCTA , LRG_459t2:c.683_691delinsCTGGCCCTA NP_715640.2:p.Ser228=
NM_175629.2:c.1250_1258delinsCTGGCCCTA , LRG_459t4:c.1250_1258delinsCTGGCCCTA NP_783328.1:p.Ser417=
XM_005264175.3:c.1250_1258delinsCTGGCCCTA XP_005264232.1:p.Ser417=
XM_005264177.3:c.581_589delinsCTGGCCCTA XP_005264234.1:p.Ser194=
XM_006711957.2:c.1250_1258delinsCTGGCCCTA XP_006712020.1:p.Ser417=
XM_006711958.2:c.806_814delinsCTGGCCCTA XP_006712021.1:p.Ser269=
XM_011532662.1:c.1103_1111delinsCTGGCCCTA XP_011530964.1:p.Ser368=
XM_011532663.1:c.1085_1093delinsCTGGCCCTA XP_011530965.1:p.Ser362=
XM_011532664.1:c.1250_1258delinsCTGGCCCTA XP_011530966.1:p.Ser417=
XM_011532665.1:c.794_802delinsCTGGCCCTA XP_011530967.1:p.Ser265=
XM_011532666.1:c.722_730delinsCTGGCCCTA XP_011530968.1:p.Ser241=
XM_011532667.1:c.581_589delinsCTGGCCCTA XP_011530969.1:p.Ser194=
XM_011532668.1:c.1250_1258delinsCTGGCCCTA XP_011530970.1:p.Ser417=
NM_001320893.1:c.794_802delinsCTGGCCCTA NP_001307822.1:p.Ser265=
NR_135490.1:n.1588_1596delinsCTGGCCCTA
XM_005264175.5:c.1250_1258delinsCTGGCCCTA XP_005264232.1:p.Ser417=
XM_005264177.4:c.581_589delinsCTGGCCCTA XP_005264234.1:p.Ser194=
XM_011532662.2:c.1103_1111delinsCTGGCCCTA XP_011530964.1:p.Ser368=
XM_011532663.2:c.1085_1093delinsCTGGCCCTA XP_011530965.1:p.Ser362=
XM_011532664.2:c.1250_1258delinsCTGGCCCTA XP_011530966.1:p.Ser417=
XM_011532666.2:c.722_730delinsCTGGCCCTA XP_011530968.1:p.Ser241=
XM_011532667.3:c.581_589delinsCTGGCCCTA XP_011530969.1:p.Ser194=
XM_017003526.1:c.1250_1258delinsCTGGCCCTA XP_016859015.1:p.Ser417=
XM_017003527.1:c.581_589delinsCTGGCCCTA XP_016859016.1:p.Ser194=
XR_001738657.1:n.1527_1535delinsCTGGCCCTA
NM_001375819.1:c.581_589delinsCTGGCCCTA NP_001362748.1:p.Ser194=
NR_135490.2:n.1481_1489delinsCTGGCCCTA
NM_022552.5:c.1250_1258delinsCTGGCCCTA MANE Select NP_072046.2:p.Ser417=