Canonical Allele Identifier: CA1028511754
Gene: DNMT3A HGNC NCBI

Linked Data

dbSNP Id: rs1674808666

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25246633del , CM000664.2:g.25246633del GRCh38
NC_000002.11:g.25469502del , CM000664.1:g.25469502del GRCh37
NC_000002.10:g.25323006del NCBI36
NG_029465.2:g.100959del , LRG_459:g.100959del

Transcript Alleles

HGVS Amino-acid Change
ENST00000683393.1:c.413del ENSP00000508654.1:n.413del
ENST00000683760.1:c.598del ENSP00000507765.1:p.Glu200SerfsTer?
ENST00000321117.10:c.1267del MANE Select ENSP00000324375.5:p.Glu423SerfsTer?
ENST00000264709.7:c.1267del ENSP00000264709.3:p.Glu423SerfsTer?
ENST00000321117.9:c.1267del ENSP00000324375.5:p.Glu423SerfsTer?
ENST00000380746.8:c.700del ENSP00000370122.4:p.Glu234SerfsTer?
ENST00000380756.7:c.1267del ENSP00000370132.3:p.Glu423SerfsTer?
ENST00000402667.1:c.598del ENSP00000384237.1:p.Glu200SerfsTer?
ENST00000474807.5:n.562del
NM_022552.4:c.1267del , LRG_459t1:c.1267del NP_072046.2:p.Glu423SerfsTer?
NM_153759.3:c.700del , LRG_459t2:c.700del NP_715640.2:p.Glu234SerfsTer?
NM_175629.2:c.1267del , LRG_459t4:c.1267del NP_783328.1:p.Glu423SerfsTer?
XM_005264175.3:c.1267del XP_005264232.1:p.Glu423SerfsTer?
XM_005264177.3:c.598del XP_005264234.1:p.Glu200SerfsTer?
XM_006711957.2:c.1267del XP_006712020.1:p.Glu423SerfsTer?
XM_006711958.2:c.823del XP_006712021.1:p.Glu275SerfsTer?
XM_011532662.1:c.1120del XP_011530964.1:p.Glu374SerfsTer?
XM_011532663.1:c.1102del XP_011530965.1:p.Glu368SerfsTer?
XM_011532664.1:c.1267del XP_011530966.1:p.Glu423SerfsTer?
XM_011532665.1:c.811del XP_011530967.1:p.Glu271SerfsTer?
XM_011532666.1:c.739del XP_011530968.1:p.Glu247SerfsTer?
XM_011532667.1:c.598del XP_011530969.1:p.Glu200SerfsTer?
XM_011532668.1:c.1267del XP_011530970.1:p.Glu423SerfsTer?
NM_001320893.1:c.811del NP_001307822.1:p.Glu271SerfsTer?
NR_135490.1:n.1605del
XM_005264175.5:c.1267del XP_005264232.1:p.Glu423SerfsTer?
XM_005264177.4:c.598del XP_005264234.1:p.Glu200SerfsTer?
XM_011532662.2:c.1120del XP_011530964.1:p.Glu374SerfsTer?
XM_011532663.2:c.1102del XP_011530965.1:p.Glu368SerfsTer?
XM_011532664.2:c.1267del XP_011530966.1:p.Glu423SerfsTer?
XM_011532666.2:c.739del XP_011530968.1:p.Glu247SerfsTer?
XM_011532667.3:c.598del XP_011530969.1:p.Glu200SerfsTer?
XM_017003526.1:c.1267del XP_016859015.1:p.Glu423SerfsTer?
XM_017003527.1:c.598del XP_016859016.1:p.Glu200SerfsTer?
XR_001738657.1:n.1544del
NM_001375819.1:c.598del NP_001362748.1:p.Glu200SerfsTer?
NR_135490.2:n.1498del
NM_022552.5:c.1267del MANE Select NP_072046.2:p.Glu423SerfsTer?