Canonical Allele Identifier: CA2576693880

Gene: DNMT3A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240309_25240312del , CM000664.2:g.25240309_25240312del	GRCh38
NC_000002.11:g.25463178_25463181del , CM000664.1:g.25463178_25463181del	GRCh37
NC_000002.10:g.25316682_25316685del	NCBI36
NG_029465.2:g.107279_107282del , LRG_459:g.107279_107282del

Transcript Alleles

HGVS	Amino-acid change
ENST00000474887.6:c.631_634del
ENST00000683393.1:c.1458_1461del	ENSP00000508654.1:n.1458_1461del
ENST00000683760.1:c.1643_1646del	ENSP00000507765.1:p.Arg548LeufsTer7
ENST00000321117.10:c.2312_2315del MANE Select	ENSP00000324375.5:p.Arg771LeufsTer7
ENST00000264709.7:c.2312_2315del	ENSP00000264709.3:p.Arg771LeufsTer7
ENST00000321117.9:c.2312_2315del	ENSP00000324375.5:p.Arg771LeufsTer7
ENST00000380746.8:c.1745_1748del	ENSP00000370122.4:p.Arg582LeufsTer7
ENST00000380756.7:c.2312_2315del	ENSP00000370132.3:p.Arg771LeufsTer?
ENST00000402667.1:c.1643_1646del	ENSP00000384237.1:p.Arg548LeufsTer7
ENST00000461228.1:n.531_534del
ENST00000466601.5:n.684_687del
ENST00000474887.5:n.631_634del
ENST00000482935.5:n.312_315del
ENST00000491288.5:n.310+328_310+331del
NM_022552.4:c.2312_2315del , LRG_459t1:c.2312_2315del	NP_072046.2:p.Arg771LeufsTer7
NM_153759.3:c.1745_1748del , LRG_459t2:c.1745_1748del	NP_715640.2:p.Arg582LeufsTer7
NM_175629.2:c.2312_2315del , LRG_459t4:c.2312_2315del	NP_783328.1:p.Arg771LeufsTer7
XM_005264175.3:c.2312_2315del	XP_005264232.1:p.Arg771LeufsTer7
XM_005264177.3:c.1643_1646del	XP_005264234.1:p.Arg548LeufsTer7
XM_006711957.2:c.2312_2315del	XP_006712020.1:p.Arg771LeufsTer7
XM_006711958.2:c.1868_1871del	XP_006712021.1:p.Arg623LeufsTer7
XM_011532662.1:c.2165_2168del	XP_011530964.1:p.Arg722LeufsTer7
XM_011532663.1:c.2147_2150del	XP_011530965.1:p.Arg716LeufsTer7
XM_011532664.1:c.2312_2315del	XP_011530966.1:p.Arg771LeufsTer?
XM_011532665.1:c.1856_1859del	XP_011530967.1:p.Arg619LeufsTer7
XM_011532666.1:c.1784_1787del	XP_011530968.1:p.Arg595LeufsTer7
XM_011532667.1:c.1643_1646del	XP_011530969.1:p.Arg548LeufsTer7
XM_011532668.1:c.2312_2315del	XP_011530970.1:p.Arg771LeufsTer?
NM_001320893.1:c.1856_1859del	NP_001307822.1:p.Arg619LeufsTer7
NR_135490.1:n.2650_2653del
XM_005264175.5:c.2312_2315del	XP_005264232.1:p.Arg771LeufsTer7
XM_005264177.4:c.1643_1646del	XP_005264234.1:p.Arg548LeufsTer7
XM_011532662.2:c.2165_2168del	XP_011530964.1:p.Arg722LeufsTer7
XM_011532663.2:c.2147_2150del	XP_011530965.1:p.Arg716LeufsTer7
XM_011532664.2:c.2312_2315del	XP_011530966.1:p.Arg771LeufsTer?
XM_011532666.2:c.1784_1787del	XP_011530968.1:p.Arg595LeufsTer7
XM_011532667.3:c.1643_1646del	XP_011530969.1:p.Arg548LeufsTer7
XM_017003526.1:c.2312_2315del	XP_016859015.1:p.Arg771LeufsTer7
XM_017003527.1:c.1643_1646del	XP_016859016.1:p.Arg548LeufsTer7
XR_001738657.1:n.2589_2592del
NM_001375819.1:c.1643_1646del	NP_001362748.1:p.Arg548LeufsTer7
NR_135490.2:n.2543_2546del
NM_022552.5:c.2312_2315del MANE Select	NP_072046.2:p.Arg771LeufsTer7