Canonical Allele Identifier: CA2658168498

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25244213-C-CGCCGCCGCAGCAGCCCGTAGGTACCCTTGTGCCCGCACAT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25244215_25244254dup , CM000664.2:g.25244215_25244254dup	GRCh38
NC_000002.11:g.25467084_25467123dup , CM000664.1:g.25467084_25467123dup	GRCh37
NC_000002.10:g.25320588_25320627dup	NCBI36
NG_029465.2:g.103338_103377dup , LRG_459:g.103338_103377dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000474887.6:c.72_111dup
ENST00000683393.1:c.899_938dup	ENSP00000508654.1:n.899_938dup
ENST00000683760.1:c.1084_1123dup	ENSP00000507765.1:p.Arg375HisfsTer27
ENST00000321117.10:c.1753_1792dup MANE Select	ENSP00000324375.5:p.Arg598HisfsTer27
ENST00000264709.7:c.1753_1792dup	ENSP00000264709.3:p.Arg598HisfsTer27
ENST00000321117.9:c.1753_1792dup	ENSP00000324375.5:p.Arg598HisfsTer27
ENST00000380746.8:c.1186_1225dup	ENSP00000370122.4:p.Arg409HisfsTer27
ENST00000380756.7:c.1753_1792dup	ENSP00000370132.3:p.Arg598HisfsTer27
ENST00000402667.1:c.1084_1123dup	ENSP00000384237.1:p.Arg375HisfsTer27
ENST00000474887.5:n.72_111dup
NM_022552.4:c.1753_1792dup , LRG_459t1:c.1753_1792dup	NP_072046.2:p.Arg598HisfsTer27
NM_153759.3:c.1186_1225dup , LRG_459t2:c.1186_1225dup	NP_715640.2:p.Arg409HisfsTer27
NM_175629.2:c.1753_1792dup , LRG_459t4:c.1753_1792dup	NP_783328.1:p.Arg598HisfsTer27
XM_005264175.3:c.1753_1792dup	XP_005264232.1:p.Arg598HisfsTer27
XM_005264177.3:c.1084_1123dup	XP_005264234.1:p.Arg375HisfsTer27
XM_006711957.2:c.1753_1792dup	XP_006712020.1:p.Arg598HisfsTer27
XM_006711958.2:c.1309_1348dup	XP_006712021.1:p.Arg450HisfsTer27
XM_011532662.1:c.1606_1645dup	XP_011530964.1:p.Arg549HisfsTer27
XM_011532663.1:c.1588_1627dup	XP_011530965.1:p.Arg543HisfsTer27
XM_011532664.1:c.1753_1792dup	XP_011530966.1:p.Arg598HisfsTer27
XM_011532665.1:c.1297_1336dup	XP_011530967.1:p.Arg446HisfsTer27
XM_011532666.1:c.1225_1264dup	XP_011530968.1:p.Arg422HisfsTer27
XM_011532667.1:c.1084_1123dup	XP_011530969.1:p.Arg375HisfsTer27
XM_011532668.1:c.1753_1792dup	XP_011530970.1:p.Arg598HisfsTer27
NM_001320893.1:c.1297_1336dup	NP_001307822.1:p.Arg446HisfsTer27
NR_135490.1:n.2091_2130dup
XM_005264175.5:c.1753_1792dup	XP_005264232.1:p.Arg598HisfsTer27
XM_005264177.4:c.1084_1123dup	XP_005264234.1:p.Arg375HisfsTer27
XM_011532662.2:c.1606_1645dup	XP_011530964.1:p.Arg549HisfsTer27
XM_011532663.2:c.1588_1627dup	XP_011530965.1:p.Arg543HisfsTer27
XM_011532664.2:c.1753_1792dup	XP_011530966.1:p.Arg598HisfsTer27
XM_011532666.2:c.1225_1264dup	XP_011530968.1:p.Arg422HisfsTer27
XM_011532667.3:c.1084_1123dup	XP_011530969.1:p.Arg375HisfsTer27
XM_017003526.1:c.1753_1792dup	XP_016859015.1:p.Arg598HisfsTer27
XM_017003527.1:c.1084_1123dup	XP_016859016.1:p.Arg375HisfsTer27
XR_001738657.1:n.2030_2069dup
NM_001375819.1:c.1084_1123dup	NP_001362748.1:p.Arg375HisfsTer27
NR_135490.2:n.1984_2023dup
NM_022552.5:c.1753_1792dup MANE Select	NP_072046.2:p.Arg598HisfsTer27