Canonical Allele Identifier: CA1239265115

Gene: DNMT3A

Linked Data

• dbSNP Id: rs1673828848

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240311_25240314del , CM000664.2:g.25240311_25240314del	GRCh38
NC_000002.11:g.25463180_25463183del , CM000664.1:g.25463180_25463183del	GRCh37
NC_000002.10:g.25316684_25316687del	NCBI36
NG_029465.2:g.107277_107280del , LRG_459:g.107277_107280del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.629_632del
ENST00000683393.1:c.1456_1459del	ENSP00000508654.1:n.1456_1459del
ENST00000683760.1:c.1641_1644del	ENSP00000507765.1:p.Arg548PhefsTer7
ENST00000321117.10:c.2310_2313del MANE Select	ENSP00000324375.5:p.Arg771PhefsTer7
ENST00000264709.7:c.2310_2313del	ENSP00000264709.3:p.Arg771PhefsTer7
ENST00000321117.9:c.2310_2313del	ENSP00000324375.5:p.Arg771PhefsTer7
ENST00000380746.8:c.1743_1746del	ENSP00000370122.4:p.Arg582PhefsTer7
ENST00000380756.7:c.2310_2313del	ENSP00000370132.3:p.Arg771PhefsTer?
ENST00000402667.1:c.1641_1644del	ENSP00000384237.1:p.Arg548PhefsTer7
ENST00000461228.1:n.529_532del
ENST00000466601.5:n.682_685del
ENST00000474887.5:n.629_632del
ENST00000482935.5:n.310_313del
ENST00000491288.5:n.310+326_310+329del
NM_022552.4:c.2310_2313del , LRG_459t1:c.2310_2313del	NP_072046.2:p.Arg771PhefsTer7
NM_153759.3:c.1743_1746del , LRG_459t2:c.1743_1746del	NP_715640.2:p.Arg582PhefsTer7
NM_175629.2:c.2310_2313del , LRG_459t4:c.2310_2313del	NP_783328.1:p.Arg771PhefsTer7
XM_005264175.3:c.2310_2313del	XP_005264232.1:p.Arg771PhefsTer7
XM_005264177.3:c.1641_1644del	XP_005264234.1:p.Arg548PhefsTer7
XM_006711957.2:c.2310_2313del	XP_006712020.1:p.Arg771PhefsTer7
XM_006711958.2:c.1866_1869del	XP_006712021.1:p.Arg623PhefsTer7
XM_011532662.1:c.2163_2166del	XP_011530964.1:p.Arg722PhefsTer7
XM_011532663.1:c.2145_2148del	XP_011530965.1:p.Arg716PhefsTer7
XM_011532664.1:c.2310_2313del	XP_011530966.1:p.Arg771PhefsTer?
XM_011532665.1:c.1854_1857del	XP_011530967.1:p.Arg619PhefsTer7
XM_011532666.1:c.1782_1785del	XP_011530968.1:p.Arg595PhefsTer7
XM_011532667.1:c.1641_1644del	XP_011530969.1:p.Arg548PhefsTer7
XM_011532668.1:c.2310_2313del	XP_011530970.1:p.Arg771PhefsTer?
NM_001320893.1:c.1854_1857del	NP_001307822.1:p.Arg619PhefsTer7
NR_135490.1:n.2648_2651del
XM_005264175.5:c.2310_2313del	XP_005264232.1:p.Arg771PhefsTer7
XM_005264177.4:c.1641_1644del	XP_005264234.1:p.Arg548PhefsTer7
XM_011532662.2:c.2163_2166del	XP_011530964.1:p.Arg722PhefsTer7
XM_011532663.2:c.2145_2148del	XP_011530965.1:p.Arg716PhefsTer7
XM_011532664.2:c.2310_2313del	XP_011530966.1:p.Arg771PhefsTer?
XM_011532666.2:c.1782_1785del	XP_011530968.1:p.Arg595PhefsTer7
XM_011532667.3:c.1641_1644del	XP_011530969.1:p.Arg548PhefsTer7
XM_017003526.1:c.2310_2313del	XP_016859015.1:p.Arg771PhefsTer7
XM_017003527.1:c.1641_1644del	XP_016859016.1:p.Arg548PhefsTer7
XR_001738657.1:n.2587_2590del
NM_001375819.1:c.1641_1644del	NP_001362748.1:p.Arg548PhefsTer7
NR_135490.2:n.2541_2544del
NM_022552.5:c.2310_2313del MANE Select	NP_072046.2:p.Arg771PhefsTer7