Canonical Allele Identifier: CA645515166

Gene: DNMT3A

Linked Data

• COSMIC: COSM144494

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240343_25240348dup , CM000664.2:g.25240343_25240348dup	GRCh38
NC_000002.11:g.25463212_25463217dup , CM000664.1:g.25463212_25463217dup	GRCh37
NC_000002.10:g.25316716_25316721dup	NCBI36
NG_029465.2:g.107246_107251dup , LRG_459:g.107246_107251dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.598_603dup
ENST00000683393.1:c.1425_1430dup	ENSP00000508654.1:n.1425_1430dup
ENST00000683760.1:c.1610_1615dup	ENSP00000507765.1:p.Met538_Gly539insAlaMet
ENST00000321117.10:c.2279_2284dup MANE Select	ENSP00000324375.5:p.Met761_Gly762insAlaMet
ENST00000264709.7:c.2279_2284dup	ENSP00000264709.3:p.Met761_Gly762insAlaMet
ENST00000321117.9:c.2279_2284dup	ENSP00000324375.5:p.Met761_Gly762insAlaMet
ENST00000380746.8:c.1712_1717dup	ENSP00000370122.4:p.Met572_Gly573insAlaMet
ENST00000380756.7:c.2279_2284dup	ENSP00000370132.3:p.Met761_Gly762insAlaMet
ENST00000402667.1:c.1610_1615dup	ENSP00000384237.1:p.Met538_Gly539insAlaMet
ENST00000461228.1:n.498_503dup
ENST00000466601.5:n.651_656dup
ENST00000474887.5:n.598_603dup
ENST00000482935.5:n.279_284dup
ENST00000491288.5:n.310+295_310+300dup
NM_022552.4:c.2279_2284dup , LRG_459t1:c.2279_2284dup	NP_072046.2:p.Met761_Gly762insAlaMet
NM_153759.3:c.1712_1717dup , LRG_459t2:c.1712_1717dup	NP_715640.2:p.Met572_Gly573insAlaMet
NM_175629.2:c.2279_2284dup , LRG_459t4:c.2279_2284dup	NP_783328.1:p.Met761_Gly762insAlaMet
XM_005264175.3:c.2279_2284dup	XP_005264232.1:p.Met761_Gly762insAlaMet
XM_005264177.3:c.1610_1615dup	XP_005264234.1:p.Met538_Gly539insAlaMet
XM_006711957.2:c.2279_2284dup	XP_006712020.1:p.Met761_Gly762insAlaMet
XM_006711958.2:c.1835_1840dup	XP_006712021.1:p.Met613_Gly614insAlaMet
XM_011532662.1:c.2132_2137dup	XP_011530964.1:p.Met712_Gly713insAlaMet
XM_011532663.1:c.2114_2119dup	XP_011530965.1:p.Met706_Gly707insAlaMet
XM_011532664.1:c.2279_2284dup	XP_011530966.1:p.Met761_Gly762insAlaMet
XM_011532665.1:c.1823_1828dup	XP_011530967.1:p.Met609_Gly610insAlaMet
XM_011532666.1:c.1751_1756dup	XP_011530968.1:p.Met585_Gly586insAlaMet
XM_011532667.1:c.1610_1615dup	XP_011530969.1:p.Met538_Gly539insAlaMet
XM_011532668.1:c.2279_2284dup	XP_011530970.1:p.Met761_Gly762insAlaMet
NM_001320893.1:c.1823_1828dup	NP_001307822.1:p.Met609_Gly610insAlaMet
NR_135490.1:n.2617_2622dup
XM_005264175.5:c.2279_2284dup	XP_005264232.1:p.Met761_Gly762insAlaMet
XM_005264177.4:c.1610_1615dup	XP_005264234.1:p.Met538_Gly539insAlaMet
XM_011532662.2:c.2132_2137dup	XP_011530964.1:p.Met712_Gly713insAlaMet
XM_011532663.2:c.2114_2119dup	XP_011530965.1:p.Met706_Gly707insAlaMet
XM_011532664.2:c.2279_2284dup	XP_011530966.1:p.Met761_Gly762insAlaMet
XM_011532666.2:c.1751_1756dup	XP_011530968.1:p.Met585_Gly586insAlaMet
XM_011532667.3:c.1610_1615dup	XP_011530969.1:p.Met538_Gly539insAlaMet
XM_017003526.1:c.2279_2284dup	XP_016859015.1:p.Met761_Gly762insAlaMet
XM_017003527.1:c.1610_1615dup	XP_016859016.1:p.Met538_Gly539insAlaMet
XR_001738657.1:n.2556_2561dup
NM_001375819.1:c.1610_1615dup	NP_001362748.1:p.Met538_Gly539insAlaMet
NR_135490.2:n.2510_2515dup
NM_022552.5:c.2279_2284dup MANE Select	NP_072046.2:p.Met761_Gly762insAlaMet