Canonical Allele Identifier: CA2576693876

Gene: DNMT3A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240303_25240304del , CM000664.2:g.25240303_25240304del	GRCh38
NC_000002.11:g.25463172_25463173del , CM000664.1:g.25463172_25463173del	GRCh37
NC_000002.10:g.25316676_25316677del	NCBI36
NG_029465.2:g.107288_107289del , LRG_459:g.107288_107289del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.640_641del
ENST00000683393.1:c.1467_1468del	ENSP00000508654.1:n.1467_1468del
ENST00000683760.1:c.1652_1653del	ENSP00000507765.1:p.Glu551ValfsTer7
ENST00000321117.10:c.2321_2322del MANE Select	ENSP00000324375.5:p.Glu774ValfsTer7
ENST00000264709.7:c.2321_2322del	ENSP00000264709.3:p.Glu774ValfsTer7
ENST00000321117.9:c.2321_2322del	ENSP00000324375.5:p.Glu774ValfsTer7
ENST00000380746.8:c.1754_1755del	ENSP00000370122.4:p.Glu585ValfsTer7
ENST00000380756.7:c.2321_2322del	ENSP00000370132.3:p.Glu774GlyfsTer4
ENST00000402667.1:c.1652_1653del	ENSP00000384237.1:p.Glu551ValfsTer7
ENST00000461228.1:n.540_541del
ENST00000466601.5:n.693_694del
ENST00000474887.5:n.640_641del
ENST00000482935.5:n.321_322del
ENST00000491288.5:n.310+337_310+338del
NM_022552.4:c.2321_2322del , LRG_459t1:c.2321_2322del	NP_072046.2:p.Glu774ValfsTer7
NM_153759.3:c.1754_1755del , LRG_459t2:c.1754_1755del	NP_715640.2:p.Glu585ValfsTer7
NM_175629.2:c.2321_2322del , LRG_459t4:c.2321_2322del	NP_783328.1:p.Glu774ValfsTer7
XM_005264175.3:c.2321_2322del	XP_005264232.1:p.Glu774ValfsTer7
XM_005264177.3:c.1652_1653del	XP_005264234.1:p.Glu551ValfsTer7
XM_006711957.2:c.2321_2322del	XP_006712020.1:p.Glu774ValfsTer7
XM_006711958.2:c.1877_1878del	XP_006712021.1:p.Glu626ValfsTer7
XM_011532662.1:c.2174_2175del	XP_011530964.1:p.Glu725ValfsTer7
XM_011532663.1:c.2156_2157del	XP_011530965.1:p.Glu719ValfsTer7
XM_011532664.1:c.2321_2322del	XP_011530966.1:p.Glu774GlyfsTer4
XM_011532665.1:c.1865_1866del	XP_011530967.1:p.Glu622ValfsTer7
XM_011532666.1:c.1793_1794del	XP_011530968.1:p.Glu598ValfsTer7
XM_011532667.1:c.1652_1653del	XP_011530969.1:p.Glu551ValfsTer7
XM_011532668.1:c.2321_2322del	XP_011530970.1:p.Glu774GlyfsTer4
NM_001320893.1:c.1865_1866del	NP_001307822.1:p.Glu622ValfsTer7
NR_135490.1:n.2659_2660del
XM_005264175.5:c.2321_2322del	XP_005264232.1:p.Glu774ValfsTer7
XM_005264177.4:c.1652_1653del	XP_005264234.1:p.Glu551ValfsTer7
XM_011532662.2:c.2174_2175del	XP_011530964.1:p.Glu725ValfsTer7
XM_011532663.2:c.2156_2157del	XP_011530965.1:p.Glu719ValfsTer7
XM_011532664.2:c.2321_2322del	XP_011530966.1:p.Glu774GlyfsTer4
XM_011532666.2:c.1793_1794del	XP_011530968.1:p.Glu598ValfsTer7
XM_011532667.3:c.1652_1653del	XP_011530969.1:p.Glu551ValfsTer7
XM_017003526.1:c.2321_2322del	XP_016859015.1:p.Glu774ValfsTer7
XM_017003527.1:c.1652_1653del	XP_016859016.1:p.Glu551ValfsTer7
XR_001738657.1:n.2598_2599del
NM_001375819.1:c.1652_1653del	NP_001362748.1:p.Glu551ValfsTer7
NR_135490.2:n.2552_2553del
NM_022552.5:c.2321_2322del MANE Select	NP_072046.2:p.Glu774ValfsTer7