Canonical Allele Identifier: CA2658168531

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25244225-A-AGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25244227_25244230dup , CM000664.2:g.25244227_25244230dup	GRCh38
NC_000002.11:g.25467096_25467099dup , CM000664.1:g.25467096_25467099dup	GRCh37
NC_000002.10:g.25320600_25320603dup	NCBI36
NG_029465.2:g.103362_103365dup , LRG_459:g.103362_103365dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000474887.6:c.96_99dup
ENST00000683393.1:c.923_926dup	ENSP00000508654.1:n.923_926dup
ENST00000683760.1:c.1108_1111dup	ENSP00000507765.1:p.Leu371ArgfsTer19
ENST00000321117.10:c.1777_1780dup MANE Select	ENSP00000324375.5:p.Leu594ArgfsTer19
ENST00000264709.7:c.1777_1780dup	ENSP00000264709.3:p.Leu594ArgfsTer19
ENST00000321117.9:c.1777_1780dup	ENSP00000324375.5:p.Leu594ArgfsTer19
ENST00000380746.8:c.1210_1213dup	ENSP00000370122.4:p.Leu405ArgfsTer19
ENST00000380756.7:c.1777_1780dup	ENSP00000370132.3:p.Leu594ArgfsTer19
ENST00000402667.1:c.1108_1111dup	ENSP00000384237.1:p.Leu371ArgfsTer19
ENST00000474887.5:n.96_99dup
NM_022552.4:c.1777_1780dup , LRG_459t1:c.1777_1780dup	NP_072046.2:p.Leu594ArgfsTer19
NM_153759.3:c.1210_1213dup , LRG_459t2:c.1210_1213dup	NP_715640.2:p.Leu405ArgfsTer19
NM_175629.2:c.1777_1780dup , LRG_459t4:c.1777_1780dup	NP_783328.1:p.Leu594ArgfsTer19
XM_005264175.3:c.1777_1780dup	XP_005264232.1:p.Leu594ArgfsTer19
XM_005264177.3:c.1108_1111dup	XP_005264234.1:p.Leu371ArgfsTer19
XM_006711957.2:c.1777_1780dup	XP_006712020.1:p.Leu594ArgfsTer19
XM_006711958.2:c.1333_1336dup	XP_006712021.1:p.Leu446ArgfsTer19
XM_011532662.1:c.1630_1633dup	XP_011530964.1:p.Leu545ArgfsTer19
XM_011532663.1:c.1612_1615dup	XP_011530965.1:p.Leu539ArgfsTer19
XM_011532664.1:c.1777_1780dup	XP_011530966.1:p.Leu594ArgfsTer19
XM_011532665.1:c.1321_1324dup	XP_011530967.1:p.Leu442ArgfsTer19
XM_011532666.1:c.1249_1252dup	XP_011530968.1:p.Leu418ArgfsTer19
XM_011532667.1:c.1108_1111dup	XP_011530969.1:p.Leu371ArgfsTer19
XM_011532668.1:c.1777_1780dup	XP_011530970.1:p.Leu594ArgfsTer19
NM_001320893.1:c.1321_1324dup	NP_001307822.1:p.Leu442ArgfsTer19
NR_135490.1:n.2115_2118dup
XM_005264175.5:c.1777_1780dup	XP_005264232.1:p.Leu594ArgfsTer19
XM_005264177.4:c.1108_1111dup	XP_005264234.1:p.Leu371ArgfsTer19
XM_011532662.2:c.1630_1633dup	XP_011530964.1:p.Leu545ArgfsTer19
XM_011532663.2:c.1612_1615dup	XP_011530965.1:p.Leu539ArgfsTer19
XM_011532664.2:c.1777_1780dup	XP_011530966.1:p.Leu594ArgfsTer19
XM_011532666.2:c.1249_1252dup	XP_011530968.1:p.Leu418ArgfsTer19
XM_011532667.3:c.1108_1111dup	XP_011530969.1:p.Leu371ArgfsTer19
XM_017003526.1:c.1777_1780dup	XP_016859015.1:p.Leu594ArgfsTer19
XM_017003527.1:c.1108_1111dup	XP_016859016.1:p.Leu371ArgfsTer19
XR_001738657.1:n.2054_2057dup
NM_001375819.1:c.1108_1111dup	NP_001362748.1:p.Leu371ArgfsTer19
NR_135490.2:n.2008_2011dup
NM_022552.5:c.1777_1780dup MANE Select	NP_072046.2:p.Leu594ArgfsTer19