Canonical Allele Identifier: CA645515239

Gene: DNMT3A

Linked Data

• COSMIC: COSM87013

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25246636_25246657dup , CM000664.2:g.25246636_25246657dup	GRCh38
NC_000002.11:g.25469505_25469526dup , CM000664.1:g.25469505_25469526dup	GRCh37
NC_000002.10:g.25323009_25323030dup	NCBI36
NG_029465.2:g.100935_100956dup , LRG_459:g.100935_100956dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683393.1:c.389_410dup	ENSP00000508654.1:n.389_410dup
ENST00000683760.1:c.574_595dup	ENSP00000507765.1:p.Leu199ProfsTer6
ENST00000321117.10:c.1243_1264dup MANE Select	ENSP00000324375.5:p.Leu422ProfsTer6
ENST00000264709.7:c.1243_1264dup	ENSP00000264709.3:p.Leu422ProfsTer6
ENST00000321117.9:c.1243_1264dup	ENSP00000324375.5:p.Leu422ProfsTer6
ENST00000380746.8:c.676_697dup	ENSP00000370122.4:p.Leu233ProfsTer6
ENST00000380756.7:c.1243_1264dup	ENSP00000370132.3:p.Leu422ProfsTer6
ENST00000402667.1:c.574_595dup	ENSP00000384237.1:p.Leu199ProfsTer6
ENST00000474807.5:n.538_559dup
NM_022552.4:c.1243_1264dup , LRG_459t1:c.1243_1264dup	NP_072046.2:p.Leu422ProfsTer6
NM_153759.3:c.676_697dup , LRG_459t2:c.676_697dup	NP_715640.2:p.Leu233ProfsTer6
NM_175629.2:c.1243_1264dup , LRG_459t4:c.1243_1264dup	NP_783328.1:p.Leu422ProfsTer6
XM_005264175.3:c.1243_1264dup	XP_005264232.1:p.Leu422ProfsTer6
XM_005264177.3:c.574_595dup	XP_005264234.1:p.Leu199ProfsTer6
XM_006711957.2:c.1243_1264dup	XP_006712020.1:p.Leu422ProfsTer6
XM_006711958.2:c.799_820dup	XP_006712021.1:p.Leu274ProfsTer6
XM_011532662.1:c.1096_1117dup	XP_011530964.1:p.Leu373ProfsTer6
XM_011532663.1:c.1078_1099dup	XP_011530965.1:p.Leu367ProfsTer6
XM_011532664.1:c.1243_1264dup	XP_011530966.1:p.Leu422ProfsTer6
XM_011532665.1:c.787_808dup	XP_011530967.1:p.Leu270ProfsTer6
XM_011532666.1:c.715_736dup	XP_011530968.1:p.Leu246ProfsTer6
XM_011532667.1:c.574_595dup	XP_011530969.1:p.Leu199ProfsTer6
XM_011532668.1:c.1243_1264dup	XP_011530970.1:p.Leu422ProfsTer6
NM_001320893.1:c.787_808dup	NP_001307822.1:p.Leu270ProfsTer6
NR_135490.1:n.1581_1602dup
XM_005264175.5:c.1243_1264dup	XP_005264232.1:p.Leu422ProfsTer6
XM_005264177.4:c.574_595dup	XP_005264234.1:p.Leu199ProfsTer6
XM_011532662.2:c.1096_1117dup	XP_011530964.1:p.Leu373ProfsTer6
XM_011532663.2:c.1078_1099dup	XP_011530965.1:p.Leu367ProfsTer6
XM_011532664.2:c.1243_1264dup	XP_011530966.1:p.Leu422ProfsTer6
XM_011532666.2:c.715_736dup	XP_011530968.1:p.Leu246ProfsTer6
XM_011532667.3:c.574_595dup	XP_011530969.1:p.Leu199ProfsTer6
XM_017003526.1:c.1243_1264dup	XP_016859015.1:p.Leu422ProfsTer6
XM_017003527.1:c.574_595dup	XP_016859016.1:p.Leu199ProfsTer6
XR_001738657.1:n.1520_1541dup
NM_001375819.1:c.574_595dup	NP_001362748.1:p.Leu199ProfsTer6
NR_135490.2:n.1474_1495dup
NM_022552.5:c.1243_1264dup MANE Select	NP_072046.2:p.Leu422ProfsTer6