Canonical Allele Identifier: CA645515226
Community Standard Title: NM_022552.5(DNMT3A):c.1481_1482delinsCT (p.Cys494Ser)
Gene: DNMT3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25245325_25245326delinsAG , CM000664.2:g.25245325_25245326delinsAG GRCh38
NC_000002.11:g.25468194_25468195delinsAG , CM000664.1:g.25468194_25468195delinsAG GRCh37
NC_000002.10:g.25321698_25321699delinsAG NCBI36
NG_029465.2:g.102265_102266delinsCT , LRG_459:g.102265_102266delinsCT

Transcript Alleles

HGVS Amino-acid Change
NM_022552.5:c.1481_1482delinsCT MANE Select NP_072046.2:p.Cys494Ser
ENST00000321117.10:c.1481_1482delinsCT MANE Select ENSP00000324375.5:p.Cys494Ser
NM_001320893.1:c.1025_1026delinsCT NP_001307822.1:p.Cys342Ser
NM_001375819.1:c.812_813delinsCT NP_001362748.1:p.Cys271Ser
NM_022552.4:c.1481_1482delinsCT , LRG_459t1:c.1481_1482delinsCT NP_072046.2:p.Cys494Ser
NM_153759.3:c.914_915delinsCT , LRG_459t2:c.914_915delinsCT NP_715640.2:p.Cys305Ser
NM_175629.2:c.1481_1482delinsCT , LRG_459t4:c.1481_1482delinsCT NP_783328.1:p.Cys494Ser
NR_135490.1:n.1819_1820delinsCT
NR_135490.2:n.1712_1713delinsCT
ENST00000264709.7:c.1481_1482delinsCT ENSP00000264709.3:p.Cys494Ser
ENST00000321117.9:c.1481_1482delinsCT ENSP00000324375.5:p.Cys494Ser
ENST00000380746.8:c.914_915delinsCT ENSP00000370122.4:p.Cys305Ser
ENST00000380756.7:c.1481_1482delinsCT ENSP00000370132.3:p.Cys494Ser
ENST00000402667.1:c.812_813delinsCT ENSP00000384237.1:p.Cys271Ser
ENST00000474807.5:n.776_777delinsCT
ENST00000683393.1:c.627_628delinsCT ENSP00000508654.1:n.627_628delinsCT
ENST00000683760.1:c.812_813delinsCT ENSP00000507765.1:p.Cys271Ser
XM_005264175.3:c.1481_1482delinsCT XP_005264232.1:p.Cys494Ser
XM_005264175.5:c.1481_1482delinsCT XP_005264232.1:p.Cys494Ser
XM_005264177.3:c.812_813delinsCT XP_005264234.1:p.Cys271Ser
XM_005264177.4:c.812_813delinsCT XP_005264234.1:p.Cys271Ser
XM_006711957.2:c.1481_1482delinsCT XP_006712020.1:p.Cys494Ser
XM_006711958.2:c.1037_1038delinsCT XP_006712021.1:p.Cys346Ser
XM_011532662.1:c.1334_1335delinsCT XP_011530964.1:p.Cys445Ser
XM_011532662.2:c.1334_1335delinsCT XP_011530964.1:p.Cys445Ser
XM_011532663.1:c.1316_1317delinsCT XP_011530965.1:p.Cys439Ser
XM_011532663.2:c.1316_1317delinsCT XP_011530965.1:p.Cys439Ser
XM_011532664.1:c.1481_1482delinsCT XP_011530966.1:p.Cys494Ser
XM_011532664.2:c.1481_1482delinsCT XP_011530966.1:p.Cys494Ser
XM_011532665.1:c.1025_1026delinsCT XP_011530967.1:p.Cys342Ser
XM_011532666.1:c.953_954delinsCT XP_011530968.1:p.Cys318Ser
XM_011532666.2:c.953_954delinsCT XP_011530968.1:p.Cys318Ser
XM_011532667.1:c.812_813delinsCT XP_011530969.1:p.Cys271Ser
XM_011532667.3:c.812_813delinsCT XP_011530969.1:p.Cys271Ser
XM_011532668.1:c.1481_1482delinsCT XP_011530970.1:p.Cys494Ser
XM_017003526.1:c.1481_1482delinsCT XP_016859015.1:p.Cys494Ser
XM_017003527.1:c.812_813delinsCT XP_016859016.1:p.Cys271Ser
XR_001738657.1:n.1758_1759delinsCT