Canonical Allele Identifier: CA2658171931
Gene: DNMT3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25240336del , CM000664.2:g.25240336del GRCh38
NC_000002.11:g.25463205del , CM000664.1:g.25463205del GRCh37
NC_000002.10:g.25316709del NCBI36
NG_029465.2:g.107256del , LRG_459:g.107256del

Transcript Alleles

HGVS Amino-acid Change
ENST00000474887.6:c.608del
ENST00000683393.1:c.1435del ENSP00000508654.1:n.1435del
ENST00000683760.1:c.1620del ENSP00000507765.1:p.Ser541ValfsTer15
ENST00000321117.10:c.2289del MANE Select ENSP00000324375.5:p.Ser764ValfsTer15
ENST00000264709.7:c.2289del ENSP00000264709.3:p.Ser764ValfsTer15
ENST00000321117.9:c.2289del ENSP00000324375.5:p.Ser764ValfsTer15
ENST00000380746.8:c.1722del ENSP00000370122.4:p.Ser575ValfsTer15
ENST00000380756.7:c.2289del ENSP00000370132.3:p.Ser764ValfsTer?
ENST00000402667.1:c.1620del ENSP00000384237.1:p.Ser541ValfsTer15
ENST00000461228.1:n.508del
ENST00000466601.5:n.661del
ENST00000474887.5:n.608del
ENST00000482935.5:n.289del
ENST00000491288.5:n.310+305del
NM_022552.4:c.2289del , LRG_459t1:c.2289del NP_072046.2:p.Ser764ValfsTer15
NM_153759.3:c.1722del , LRG_459t2:c.1722del NP_715640.2:p.Ser575ValfsTer15
NM_175629.2:c.2289del , LRG_459t4:c.2289del NP_783328.1:p.Ser764ValfsTer15
XM_005264175.3:c.2289del XP_005264232.1:p.Ser764ValfsTer15
XM_005264177.3:c.1620del XP_005264234.1:p.Ser541ValfsTer15
XM_006711957.2:c.2289del XP_006712020.1:p.Ser764ValfsTer15
XM_006711958.2:c.1845del XP_006712021.1:p.Ser616ValfsTer15
XM_011532662.1:c.2142del XP_011530964.1:p.Ser715ValfsTer15
XM_011532663.1:c.2124del XP_011530965.1:p.Ser709ValfsTer15
XM_011532664.1:c.2289del XP_011530966.1:p.Ser764ValfsTer?
XM_011532665.1:c.1833del XP_011530967.1:p.Ser612ValfsTer15
XM_011532666.1:c.1761del XP_011530968.1:p.Ser588ValfsTer15
XM_011532667.1:c.1620del XP_011530969.1:p.Ser541ValfsTer15
XM_011532668.1:c.2289del XP_011530970.1:p.Ser764ValfsTer?
NM_001320893.1:c.1833del NP_001307822.1:p.Ser612ValfsTer15
NR_135490.1:n.2627del
XM_005264175.5:c.2289del XP_005264232.1:p.Ser764ValfsTer15
XM_005264177.4:c.1620del XP_005264234.1:p.Ser541ValfsTer15
XM_011532662.2:c.2142del XP_011530964.1:p.Ser715ValfsTer15
XM_011532663.2:c.2124del XP_011530965.1:p.Ser709ValfsTer15
XM_011532664.2:c.2289del XP_011530966.1:p.Ser764ValfsTer?
XM_011532666.2:c.1761del XP_011530968.1:p.Ser588ValfsTer15
XM_011532667.3:c.1620del XP_011530969.1:p.Ser541ValfsTer15
XM_017003526.1:c.2289del XP_016859015.1:p.Ser764ValfsTer15
XM_017003527.1:c.1620del XP_016859016.1:p.Ser541ValfsTer15
XR_001738657.1:n.2566del
NM_001375819.1:c.1620del NP_001362748.1:p.Ser541ValfsTer15
NR_135490.2:n.2520del
NM_022552.5:c.2289del MANE Select NP_072046.2:p.Ser764ValfsTer15