Canonical Allele Identifier: CA2576693844

Gene: DNMT3A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25246633_25246634dup , CM000664.2:g.25246633_25246634dup	GRCh38
NC_000002.11:g.25469502_25469503dup , CM000664.1:g.25469502_25469503dup	GRCh37
NC_000002.10:g.25323006_25323007dup	NCBI36
NG_029465.2:g.100957_100958dup , LRG_459:g.100957_100958dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683393.1:c.411_412dup	ENSP00000508654.1:n.411_412dup
ENST00000683760.1:c.596_597dup	ENSP00000507765.1:p.Glu200TrpfsTer?
ENST00000321117.10:c.1265_1266dup MANE Select	ENSP00000324375.5:p.Glu423TrpfsTer?
ENST00000264709.7:c.1265_1266dup	ENSP00000264709.3:p.Glu423TrpfsTer?
ENST00000321117.9:c.1265_1266dup	ENSP00000324375.5:p.Glu423TrpfsTer?
ENST00000380746.8:c.698_699dup	ENSP00000370122.4:p.Glu234TrpfsTer?
ENST00000380756.7:c.1265_1266dup	ENSP00000370132.3:p.Glu423TrpfsTer?
ENST00000402667.1:c.596_597dup	ENSP00000384237.1:p.Glu200TrpfsTer?
ENST00000474807.5:n.560_561dup
NM_022552.4:c.1265_1266dup , LRG_459t1:c.1265_1266dup	NP_072046.2:p.Glu423TrpfsTer?
NM_153759.3:c.698_699dup , LRG_459t2:c.698_699dup	NP_715640.2:p.Glu234TrpfsTer?
NM_175629.2:c.1265_1266dup , LRG_459t4:c.1265_1266dup	NP_783328.1:p.Glu423TrpfsTer?
XM_005264175.3:c.1265_1266dup	XP_005264232.1:p.Glu423TrpfsTer?
XM_005264177.3:c.596_597dup	XP_005264234.1:p.Glu200TrpfsTer?
XM_006711957.2:c.1265_1266dup	XP_006712020.1:p.Glu423TrpfsTer?
XM_006711958.2:c.821_822dup	XP_006712021.1:p.Glu275TrpfsTer?
XM_011532662.1:c.1118_1119dup	XP_011530964.1:p.Glu374TrpfsTer?
XM_011532663.1:c.1100_1101dup	XP_011530965.1:p.Glu368TrpfsTer?
XM_011532664.1:c.1265_1266dup	XP_011530966.1:p.Glu423TrpfsTer?
XM_011532665.1:c.809_810dup	XP_011530967.1:p.Glu271TrpfsTer?
XM_011532666.1:c.737_738dup	XP_011530968.1:p.Glu247TrpfsTer?
XM_011532667.1:c.596_597dup	XP_011530969.1:p.Glu200TrpfsTer?
XM_011532668.1:c.1265_1266dup	XP_011530970.1:p.Glu423TrpfsTer?
NM_001320893.1:c.809_810dup	NP_001307822.1:p.Glu271TrpfsTer?
NR_135490.1:n.1603_1604dup
XM_005264175.5:c.1265_1266dup	XP_005264232.1:p.Glu423TrpfsTer?
XM_005264177.4:c.596_597dup	XP_005264234.1:p.Glu200TrpfsTer?
XM_011532662.2:c.1118_1119dup	XP_011530964.1:p.Glu374TrpfsTer?
XM_011532663.2:c.1100_1101dup	XP_011530965.1:p.Glu368TrpfsTer?
XM_011532664.2:c.1265_1266dup	XP_011530966.1:p.Glu423TrpfsTer?
XM_011532666.2:c.737_738dup	XP_011530968.1:p.Glu247TrpfsTer?
XM_011532667.3:c.596_597dup	XP_011530969.1:p.Glu200TrpfsTer?
XM_017003526.1:c.1265_1266dup	XP_016859015.1:p.Glu423TrpfsTer?
XM_017003527.1:c.596_597dup	XP_016859016.1:p.Glu200TrpfsTer?
XR_001738657.1:n.1542_1543dup
NM_001375819.1:c.596_597dup	NP_001362748.1:p.Glu200TrpfsTer?
NR_135490.2:n.1496_1497dup
NM_022552.5:c.1265_1266dup MANE Select	NP_072046.2:p.Glu423TrpfsTer?