Canonical Allele Identifier: CA1239254709
Gene: DNMT3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25234418_25234419delinsAC , CM000664.2:g.25234418_25234419delinsAC GRCh38
NC_000002.11:g.25457287_25457288delinsAC , CM000664.1:g.25457287_25457288delinsAC GRCh37
NC_000002.10:g.25310791_25310792delinsAC NCBI36
NG_029465.2:g.113172_113173delinsGT , LRG_459:g.113172_113173delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000474887.6:c.848_849delinsGT
ENST00000683393.1:c.1745_1746delinsGT ENSP00000508654.1:n.1745_1746delinsGT
ENST00000683760.1:c.1930_1931delinsGT ENSP00000507765.1:p.Val644=
ENST00000321117.10:c.2599_2600delinsGT MANE Select ENSP00000324375.5:p.Val867=
ENST00000264709.7:c.2599_2600delinsGT ENSP00000264709.3:p.Val867=
ENST00000321117.9:c.2599_2600delinsGT ENSP00000324375.5:p.Val867=
ENST00000380746.8:c.2032_2033delinsGT ENSP00000370122.4:p.Val678=
ENST00000380756.7:c.*452_*453delinsGT ENSP00000370132.3:n.*452_*453delinsGT
ENST00000402667.1:c.1930_1931delinsGT ENSP00000384237.1:p.Val644=
NM_022552.4:c.2599_2600delinsGT , LRG_459t1:c.2599_2600delinsGT NP_072046.2:p.Val867=
NM_153759.3:c.2032_2033delinsGT , LRG_459t2:c.2032_2033delinsGT NP_715640.2:p.Val678=
NM_175629.2:c.2599_2600delinsGT , LRG_459t4:c.2599_2600delinsGT NP_783328.1:p.Val867=
XM_005264175.3:c.2599_2600delinsGT XP_005264232.1:p.Val867=
XM_005264177.3:c.1930_1931delinsGT XP_005264234.1:p.Val644=
XM_006711958.2:c.2155_2156delinsGT XP_006712021.1:p.Val719=
XM_011532662.1:c.2452_2453delinsGT XP_011530964.1:p.Val818=
XM_011532663.1:c.2434_2435delinsGT XP_011530965.1:p.Val812=
XM_011532665.1:c.2143_2144delinsGT XP_011530967.1:p.Val715=
XM_011532666.1:c.2071_2072delinsGT XP_011530968.1:p.Val691=
XM_011532667.1:c.1930_1931delinsGT XP_011530969.1:p.Val644=
NM_001320893.1:c.2143_2144delinsGT NP_001307822.1:p.Val715=
NR_135490.1:n.3136_3137delinsGT
XM_005264175.5:c.2599_2600delinsGT XP_005264232.1:p.Val867=
XM_005264177.4:c.1930_1931delinsGT XP_005264234.1:p.Val644=
XM_011532662.2:c.2452_2453delinsGT XP_011530964.1:p.Val818=
XM_011532663.2:c.2434_2435delinsGT XP_011530965.1:p.Val812=
XM_011532666.2:c.2071_2072delinsGT XP_011530968.1:p.Val691=
XM_011532667.3:c.1930_1931delinsGT XP_011530969.1:p.Val644=
XM_017003526.1:c.2599_2600delinsGT XP_016859015.1:p.Val867=
XM_017003527.1:c.1930_1931delinsGT XP_016859016.1:p.Val644=
XR_001738657.1:n.2806_2807delinsGT
NM_001375819.1:c.1930_1931delinsGT NP_001362748.1:p.Val644=
NR_135490.2:n.3029_3030delinsGT
NM_022552.5:c.2599_2600delinsGT MANE Select NP_072046.2:p.Val867=