Canonical Allele Identifier: CA645515158

Gene: DNMT3A

Linked Data

• COSMIC: COSM1583144

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240314_25240315dup , CM000664.2:g.25240314_25240315dup	GRCh38
NC_000002.11:g.25463183_25463184dup , CM000664.1:g.25463183_25463184dup	GRCh37
NC_000002.10:g.25316687_25316688dup	NCBI36
NG_029465.2:g.107278_107279dup , LRG_459:g.107278_107279dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000474887.6:c.630_631dup
ENST00000683393.1:c.1457_1458dup	ENSP00000508654.1:n.1457_1458dup
ENST00000683760.1:c.1642_1643dup	ENSP00000507765.1:p.Phe549AspfsTer8
ENST00000321117.10:c.2311_2312dup MANE Select	ENSP00000324375.5:p.Phe772AspfsTer8
ENST00000264709.7:c.2311_2312dup	ENSP00000264709.3:p.Phe772AspfsTer8
ENST00000321117.9:c.2311_2312dup	ENSP00000324375.5:p.Phe772AspfsTer8
ENST00000380746.8:c.1744_1745dup	ENSP00000370122.4:p.Phe583AspfsTer8
ENST00000380756.7:c.2311_2312dup	ENSP00000370132.3:p.Phe772AspfsTer?
ENST00000402667.1:c.1642_1643dup	ENSP00000384237.1:p.Phe549AspfsTer8
ENST00000461228.1:n.530_531dup
ENST00000466601.5:n.683_684dup
ENST00000474887.5:n.630_631dup
ENST00000482935.5:n.311_312dup
ENST00000491288.5:n.310+327_310+328dup
NM_022552.4:c.2311_2312dup , LRG_459t1:c.2311_2312dup	NP_072046.2:p.Phe772AspfsTer8
NM_153759.3:c.1744_1745dup , LRG_459t2:c.1744_1745dup	NP_715640.2:p.Phe583AspfsTer8
NM_175629.2:c.2311_2312dup , LRG_459t4:c.2311_2312dup	NP_783328.1:p.Phe772AspfsTer8
XM_005264175.3:c.2311_2312dup	XP_005264232.1:p.Phe772AspfsTer8
XM_005264177.3:c.1642_1643dup	XP_005264234.1:p.Phe549AspfsTer8
XM_006711957.2:c.2311_2312dup	XP_006712020.1:p.Phe772AspfsTer8
XM_006711958.2:c.1867_1868dup	XP_006712021.1:p.Phe624AspfsTer8
XM_011532662.1:c.2164_2165dup	XP_011530964.1:p.Phe723AspfsTer8
XM_011532663.1:c.2146_2147dup	XP_011530965.1:p.Phe717AspfsTer8
XM_011532664.1:c.2311_2312dup	XP_011530966.1:p.Phe772AspfsTer?
XM_011532665.1:c.1855_1856dup	XP_011530967.1:p.Phe620AspfsTer8
XM_011532666.1:c.1783_1784dup	XP_011530968.1:p.Phe596AspfsTer8
XM_011532667.1:c.1642_1643dup	XP_011530969.1:p.Phe549AspfsTer8
XM_011532668.1:c.2311_2312dup	XP_011530970.1:p.Phe772AspfsTer?
NM_001320893.1:c.1855_1856dup	NP_001307822.1:p.Phe620AspfsTer8
NR_135490.1:n.2649_2650dup
XM_005264175.5:c.2311_2312dup	XP_005264232.1:p.Phe772AspfsTer8
XM_005264177.4:c.1642_1643dup	XP_005264234.1:p.Phe549AspfsTer8
XM_011532662.2:c.2164_2165dup	XP_011530964.1:p.Phe723AspfsTer8
XM_011532663.2:c.2146_2147dup	XP_011530965.1:p.Phe717AspfsTer8
XM_011532664.2:c.2311_2312dup	XP_011530966.1:p.Phe772AspfsTer?
XM_011532666.2:c.1783_1784dup	XP_011530968.1:p.Phe596AspfsTer8
XM_011532667.3:c.1642_1643dup	XP_011530969.1:p.Phe549AspfsTer8
XM_017003526.1:c.2311_2312dup	XP_016859015.1:p.Phe772AspfsTer8
XM_017003527.1:c.1642_1643dup	XP_016859016.1:p.Phe549AspfsTer8
XR_001738657.1:n.2588_2589dup
NM_001375819.1:c.1642_1643dup	NP_001362748.1:p.Phe549AspfsTer8
NR_135490.2:n.2542_2543dup
NM_022552.5:c.2311_2312dup MANE Select	NP_072046.2:p.Phe772AspfsTer8