Canonical Allele Identifier: CA10602854
Gene: DNMT3A HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.25246215del
GRCh37 chr2:g.25469084del
gnomAD v3:
2:25246214 TC / T
gnomAD v4:
chr2-25246214-TC-T
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000295479
ClinVar Variation:
280432
dbSNP:
886041641
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25246216del , CM000664.2:g.25246216del GRCh38
NC_000002.11:g.25469085del , CM000664.1:g.25469085del GRCh37
NC_000002.10:g.25322589del NCBI36
NG_029465.2:g.101376del , LRG_459:g.101376del

Transcript Alleles

HGVS Amino-acid Change
ENST00000683393.1:c.520del ENSP00000508654.1:n.520del
ENST00000683760.1:c.705del ENSP00000507765.1:p.Lys236ArgfsTer?
ENST00000321117.10:c.1374del MANE Select ENSP00000324375.5:p.Lys459ArgfsTer?
ENST00000264709.7:c.1374del ENSP00000264709.3:p.Lys459ArgfsTer?
ENST00000321117.9:c.1374del ENSP00000324375.5:p.Lys459ArgfsTer?
ENST00000380746.8:c.807del ENSP00000370122.4:p.Lys270ArgfsTer?
ENST00000380756.7:c.1374del ENSP00000370132.3:p.Lys459ArgfsTer?
ENST00000402667.1:c.705del ENSP00000384237.1:p.Lys236ArgfsTer?
ENST00000474807.5:n.669del
NM_022552.4:c.1374del , LRG_459t1:c.1374del NP_072046.2:p.Lys459ArgfsTer?
NM_153759.3:c.807del , LRG_459t2:c.807del NP_715640.2:p.Lys270ArgfsTer?
NM_175629.2:c.1374del , LRG_459t4:c.1374del NP_783328.1:p.Lys459ArgfsTer?
XM_005264175.3:c.1374del XP_005264232.1:p.Lys459ArgfsTer?
XM_005264177.3:c.705del XP_005264234.1:p.Lys236ArgfsTer?
XM_006711957.2:c.1374del XP_006712020.1:p.Lys459ArgfsTer?
XM_006711958.2:c.930del XP_006712021.1:p.Lys311ArgfsTer?
XM_011532662.1:c.1227del XP_011530964.1:p.Lys410ArgfsTer?
XM_011532663.1:c.1209del XP_011530965.1:p.Lys404ArgfsTer?
XM_011532664.1:c.1374del XP_011530966.1:p.Lys459ArgfsTer?
XM_011532665.1:c.918del XP_011530967.1:p.Lys307ArgfsTer?
XM_011532666.1:c.846del XP_011530968.1:p.Lys283ArgfsTer?
XM_011532667.1:c.705del XP_011530969.1:p.Lys236ArgfsTer?
XM_011532668.1:c.1374del XP_011530970.1:p.Lys459ArgfsTer?
NM_001320893.1:c.918del NP_001307822.1:p.Lys307ArgfsTer?
NR_135490.1:n.1712del
XM_005264175.5:c.1374del XP_005264232.1:p.Lys459ArgfsTer?
XM_005264177.4:c.705del XP_005264234.1:p.Lys236ArgfsTer?
XM_011532662.2:c.1227del XP_011530964.1:p.Lys410ArgfsTer?
XM_011532663.2:c.1209del XP_011530965.1:p.Lys404ArgfsTer?
XM_011532664.2:c.1374del XP_011530966.1:p.Lys459ArgfsTer?
XM_011532666.2:c.846del XP_011530968.1:p.Lys283ArgfsTer?
XM_011532667.3:c.705del XP_011530969.1:p.Lys236ArgfsTer?
XM_017003526.1:c.1374del XP_016859015.1:p.Lys459ArgfsTer?
XM_017003527.1:c.705del XP_016859016.1:p.Lys236ArgfsTer?
XR_001738657.1:n.1651del
NM_001375819.1:c.705del NP_001362748.1:p.Lys236ArgfsTer?
NR_135490.2:n.1605del
NM_022552.5:c.1374del MANE Select NP_072046.2:p.Lys459ArgfsTer?
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