Canonical Allele Identifier: CA425180916
Gene: DNMT3A HGNC NCBI

Linked Data

COSMIC: COSM133716
MyVariant Identifiers: chr2:g.25457281del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25234413del , CM000664.2:g.25234413del GRCh38
NC_000002.11:g.25457282del , CM000664.1:g.25457282del GRCh37
NC_000002.10:g.25310786del NCBI36
NG_029465.2:g.113179del , LRG_459:g.113179del

Transcript Alleles

HGVS Amino-acid Change
ENST00000474887.6:c.855del
ENST00000683393.1:c.1752del ENSP00000508654.1:n.1752del
ENST00000683760.1:c.1937del ENSP00000507765.1:p.Gly646ValfsTer12
ENST00000321117.10:c.2606del MANE Select ENSP00000324375.5:p.Gly869ValfsTer12
ENST00000264709.7:c.2606del ENSP00000264709.3:p.Gly869ValfsTer12
ENST00000321117.9:c.2606del ENSP00000324375.5:p.Gly869ValfsTer12
ENST00000380746.8:c.2039del ENSP00000370122.4:p.Gly680ValfsTer12
ENST00000380756.7:c.*459del ENSP00000370132.3:n.*459del
ENST00000402667.1:c.1937del ENSP00000384237.1:p.Gly646ValfsTer12
NM_022552.4:c.2606del , LRG_459t1:c.2606del NP_072046.2:p.Gly869ValfsTer12
NM_153759.3:c.2039del , LRG_459t2:c.2039del NP_715640.2:p.Gly680ValfsTer12
NM_175629.2:c.2606del , LRG_459t4:c.2606del NP_783328.1:p.Gly869ValfsTer12
XM_005264175.3:c.2606del XP_005264232.1:p.Gly869ValfsTer12
XM_005264177.3:c.1937del XP_005264234.1:p.Gly646ValfsTer12
XM_006711958.2:c.2162del XP_006712021.1:p.Gly721ValfsTer12
XM_011532662.1:c.2459del XP_011530964.1:p.Gly820ValfsTer12
XM_011532663.1:c.2441del XP_011530965.1:p.Gly814ValfsTer12
XM_011532665.1:c.2150del XP_011530967.1:p.Gly717ValfsTer12
XM_011532666.1:c.2078del XP_011530968.1:p.Gly693ValfsTer12
XM_011532667.1:c.1937del XP_011530969.1:p.Gly646ValfsTer12
NM_001320893.1:c.2150del NP_001307822.1:p.Gly717ValfsTer12
NR_135490.1:n.3143del
XM_005264175.5:c.2606del XP_005264232.1:p.Gly869ValfsTer12
XM_005264177.4:c.1937del XP_005264234.1:p.Gly646ValfsTer12
XM_011532662.2:c.2459del XP_011530964.1:p.Gly820ValfsTer12
XM_011532663.2:c.2441del XP_011530965.1:p.Gly814ValfsTer12
XM_011532666.2:c.2078del XP_011530968.1:p.Gly693ValfsTer12
XM_011532667.3:c.1937del XP_011530969.1:p.Gly646ValfsTer12
XM_017003526.1:c.2606del XP_016859015.1:p.Gly869ValfsTer12
XM_017003527.1:c.1937del XP_016859016.1:p.Gly646ValfsTer12
XR_001738657.1:n.2813del
NM_001375819.1:c.1937del NP_001362748.1:p.Gly646ValfsTer12
NR_135490.2:n.3036del
NM_022552.5:c.2606del MANE Select NP_072046.2:p.Gly869ValfsTer12