Canonical Allele Identifier: CA2658168512

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25244215-C-CCG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25244217_25244218dup , CM000664.2:g.25244217_25244218dup	GRCh38
NC_000002.11:g.25467086_25467087dup , CM000664.1:g.25467086_25467087dup	GRCh37
NC_000002.10:g.25320590_25320591dup	NCBI36
NG_029465.2:g.103374_103375dup , LRG_459:g.103374_103375dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.108_109dup
ENST00000683393.1:c.935_936dup	ENSP00000508654.1:n.935_936dup
ENST00000683760.1:c.1120_1121dup	ENSP00000507765.1:p.Arg375GlyfsTer?
ENST00000321117.10:c.1789_1790dup MANE Select	ENSP00000324375.5:p.Arg598GlyfsTer?
ENST00000264709.7:c.1789_1790dup	ENSP00000264709.3:p.Arg598GlyfsTer?
ENST00000321117.9:c.1789_1790dup	ENSP00000324375.5:p.Arg598GlyfsTer?
ENST00000380746.8:c.1222_1223dup	ENSP00000370122.4:p.Arg409GlyfsTer?
ENST00000380756.7:c.1789_1790dup	ENSP00000370132.3:p.Arg598GlyfsTer?
ENST00000402667.1:c.1120_1121dup	ENSP00000384237.1:p.Arg375GlyfsTer?
ENST00000474887.5:n.108_109dup
NM_022552.4:c.1789_1790dup , LRG_459t1:c.1789_1790dup	NP_072046.2:p.Arg598GlyfsTer?
NM_153759.3:c.1222_1223dup , LRG_459t2:c.1222_1223dup	NP_715640.2:p.Arg409GlyfsTer?
NM_175629.2:c.1789_1790dup , LRG_459t4:c.1789_1790dup	NP_783328.1:p.Arg598GlyfsTer?
XM_005264175.3:c.1789_1790dup	XP_005264232.1:p.Arg598GlyfsTer?
XM_005264177.3:c.1120_1121dup	XP_005264234.1:p.Arg375GlyfsTer?
XM_006711957.2:c.1789_1790dup	XP_006712020.1:p.Arg598GlyfsTer?
XM_006711958.2:c.1345_1346dup	XP_006712021.1:p.Arg450GlyfsTer?
XM_011532662.1:c.1642_1643dup	XP_011530964.1:p.Arg549GlyfsTer?
XM_011532663.1:c.1624_1625dup	XP_011530965.1:p.Arg543GlyfsTer?
XM_011532664.1:c.1789_1790dup	XP_011530966.1:p.Arg598GlyfsTer?
XM_011532665.1:c.1333_1334dup	XP_011530967.1:p.Arg446GlyfsTer?
XM_011532666.1:c.1261_1262dup	XP_011530968.1:p.Arg422GlyfsTer?
XM_011532667.1:c.1120_1121dup	XP_011530969.1:p.Arg375GlyfsTer?
XM_011532668.1:c.1789_1790dup	XP_011530970.1:p.Arg598GlyfsTer?
NM_001320893.1:c.1333_1334dup	NP_001307822.1:p.Arg446GlyfsTer?
NR_135490.1:n.2127_2128dup
XM_005264175.5:c.1789_1790dup	XP_005264232.1:p.Arg598GlyfsTer?
XM_005264177.4:c.1120_1121dup	XP_005264234.1:p.Arg375GlyfsTer?
XM_011532662.2:c.1642_1643dup	XP_011530964.1:p.Arg549GlyfsTer?
XM_011532663.2:c.1624_1625dup	XP_011530965.1:p.Arg543GlyfsTer?
XM_011532664.2:c.1789_1790dup	XP_011530966.1:p.Arg598GlyfsTer?
XM_011532666.2:c.1261_1262dup	XP_011530968.1:p.Arg422GlyfsTer?
XM_011532667.3:c.1120_1121dup	XP_011530969.1:p.Arg375GlyfsTer?
XM_017003526.1:c.1789_1790dup	XP_016859015.1:p.Arg598GlyfsTer?
XM_017003527.1:c.1120_1121dup	XP_016859016.1:p.Arg375GlyfsTer?
XR_001738657.1:n.2066_2067dup
NM_001375819.1:c.1120_1121dup	NP_001362748.1:p.Arg375GlyfsTer?
NR_135490.2:n.2020_2021dup
NM_022552.5:c.1789_1790dup MANE Select	NP_072046.2:p.Arg598GlyfsTer?