Canonical Allele Identifier: CA2695202296
Gene: DNMT3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25234387_25234388del , CM000664.2:g.25234387_25234388del GRCh38
NC_000002.11:g.25457256_25457257del , CM000664.1:g.25457256_25457257del GRCh37
NC_000002.10:g.25310760_25310761del NCBI36
NG_029465.2:g.113205_113206del , LRG_459:g.113205_113206del

Transcript Alleles

HGVS Amino-acid Change
ENST00000474887.6:c.881_882del
ENST00000683393.1:c.1778_1779del ENSP00000508654.1:n.1778_1779del
ENST00000683760.1:c.1963_1964del ENSP00000507765.1:p.Ser655GlnfsTer?
ENST00000321117.10:c.2632_2633del MANE Select ENSP00000324375.5:p.Ser878GlnfsTer?
ENST00000264709.7:c.2632_2633del ENSP00000264709.3:p.Ser878GlnfsTer?
ENST00000321117.9:c.2632_2633del ENSP00000324375.5:p.Ser878GlnfsTer?
ENST00000380746.8:c.2065_2066del ENSP00000370122.4:p.Ser689GlnfsTer?
ENST00000380756.7:c.*485_*486del ENSP00000370132.3:n.*485_*486del
ENST00000402667.1:c.1963_1964del ENSP00000384237.1:p.Ser655GlnfsTer?
NM_022552.4:c.2632_2633del , LRG_459t1:c.2632_2633del NP_072046.2:p.Ser878GlnfsTer?
NM_153759.3:c.2065_2066del , LRG_459t2:c.2065_2066del NP_715640.2:p.Ser689GlnfsTer?
NM_175629.2:c.2632_2633del , LRG_459t4:c.2632_2633del NP_783328.1:p.Ser878GlnfsTer?
XM_005264175.3:c.2632_2633del XP_005264232.1:p.Ser878GlnfsTer?
XM_005264177.3:c.1963_1964del XP_005264234.1:p.Ser655GlnfsTer?
XM_006711958.2:c.2188_2189del XP_006712021.1:p.Ser730GlnfsTer?
XM_011532662.1:c.2485_2486del XP_011530964.1:p.Ser829GlnfsTer?
XM_011532663.1:c.2467_2468del XP_011530965.1:p.Ser823GlnfsTer?
XM_011532665.1:c.2176_2177del XP_011530967.1:p.Ser726GlnfsTer?
XM_011532666.1:c.2104_2105del XP_011530968.1:p.Ser702GlnfsTer?
XM_011532667.1:c.1963_1964del XP_011530969.1:p.Ser655GlnfsTer?
NM_001320893.1:c.2176_2177del NP_001307822.1:p.Ser726GlnfsTer?
NR_135490.1:n.3169_3170del
XM_005264175.5:c.2632_2633del XP_005264232.1:p.Ser878GlnfsTer?
XM_005264177.4:c.1963_1964del XP_005264234.1:p.Ser655GlnfsTer?
XM_011532662.2:c.2485_2486del XP_011530964.1:p.Ser829GlnfsTer?
XM_011532663.2:c.2467_2468del XP_011530965.1:p.Ser823GlnfsTer?
XM_011532666.2:c.2104_2105del XP_011530968.1:p.Ser702GlnfsTer?
XM_011532667.3:c.1963_1964del XP_011530969.1:p.Ser655GlnfsTer?
XM_017003526.1:c.2632_2633del XP_016859015.1:p.Ser878GlnfsTer?
XM_017003527.1:c.1963_1964del XP_016859016.1:p.Ser655GlnfsTer?
XR_001738657.1:n.2839_2840del
NM_001375819.1:c.1963_1964del NP_001362748.1:p.Ser655GlnfsTer?
NR_135490.2:n.3062_3063del
NM_022552.5:c.2632_2633del MANE Select NP_072046.2:p.Ser878GlnfsTer?