Canonical Allele Identifier: CA2658168493

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25244212-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25244213dup , CM000664.2:g.25244213dup	GRCh38
NC_000002.11:g.25467082dup , CM000664.1:g.25467082dup	GRCh37
NC_000002.10:g.25320586dup	NCBI36
NG_029465.2:g.103378dup , LRG_459:g.103378dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.112dup
ENST00000683393.1:c.939dup	ENSP00000508654.1:n.939dup
ENST00000683760.1:c.1124dup	ENSP00000507765.1:p.Glu376ArgfsTer13
ENST00000321117.10:c.1793dup MANE Select	ENSP00000324375.5:p.Glu599ArgfsTer13
ENST00000264709.7:c.1793dup	ENSP00000264709.3:p.Glu599ArgfsTer13
ENST00000321117.9:c.1793dup	ENSP00000324375.5:p.Glu599ArgfsTer13
ENST00000380746.8:c.1226dup	ENSP00000370122.4:p.Glu410ArgfsTer13
ENST00000380756.7:c.1793dup	ENSP00000370132.3:p.Glu599ArgfsTer13
ENST00000402667.1:c.1124dup	ENSP00000384237.1:p.Glu376ArgfsTer13
ENST00000474887.5:n.112dup
NM_022552.4:c.1793dup , LRG_459t1:c.1793dup	NP_072046.2:p.Glu599ArgfsTer13
NM_153759.3:c.1226dup , LRG_459t2:c.1226dup	NP_715640.2:p.Glu410ArgfsTer13
NM_175629.2:c.1793dup , LRG_459t4:c.1793dup	NP_783328.1:p.Glu599ArgfsTer13
XM_005264175.3:c.1793dup	XP_005264232.1:p.Glu599ArgfsTer13
XM_005264177.3:c.1124dup	XP_005264234.1:p.Glu376ArgfsTer13
XM_006711957.2:c.1793dup	XP_006712020.1:p.Glu599ArgfsTer13
XM_006711958.2:c.1349dup	XP_006712021.1:p.Glu451ArgfsTer13
XM_011532662.1:c.1646dup	XP_011530964.1:p.Glu550ArgfsTer13
XM_011532663.1:c.1628dup	XP_011530965.1:p.Glu544ArgfsTer13
XM_011532664.1:c.1793dup	XP_011530966.1:p.Glu599ArgfsTer13
XM_011532665.1:c.1337dup	XP_011530967.1:p.Glu447ArgfsTer13
XM_011532666.1:c.1265dup	XP_011530968.1:p.Glu423ArgfsTer13
XM_011532667.1:c.1124dup	XP_011530969.1:p.Glu376ArgfsTer13
XM_011532668.1:c.1793dup	XP_011530970.1:p.Glu599ArgfsTer13
NM_001320893.1:c.1337dup	NP_001307822.1:p.Glu447ArgfsTer13
NR_135490.1:n.2131dup
XM_005264175.5:c.1793dup	XP_005264232.1:p.Glu599ArgfsTer13
XM_005264177.4:c.1124dup	XP_005264234.1:p.Glu376ArgfsTer13
XM_011532662.2:c.1646dup	XP_011530964.1:p.Glu550ArgfsTer13
XM_011532663.2:c.1628dup	XP_011530965.1:p.Glu544ArgfsTer13
XM_011532664.2:c.1793dup	XP_011530966.1:p.Glu599ArgfsTer13
XM_011532666.2:c.1265dup	XP_011530968.1:p.Glu423ArgfsTer13
XM_011532667.3:c.1124dup	XP_011530969.1:p.Glu376ArgfsTer13
XM_017003526.1:c.1793dup	XP_016859015.1:p.Glu599ArgfsTer13
XM_017003527.1:c.1124dup	XP_016859016.1:p.Glu376ArgfsTer13
XR_001738657.1:n.2070dup
NM_001375819.1:c.1124dup	NP_001362748.1:p.Glu376ArgfsTer13
NR_135490.2:n.2024dup
NM_022552.5:c.1793dup MANE Select	NP_072046.2:p.Glu599ArgfsTer13