Canonical Allele Identifier: CA2658167924
Gene: DNMT3A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25234301_25234316del , CM000664.2:g.25234301_25234316del GRCh38
NC_000002.11:g.25457170_25457185del , CM000664.1:g.25457170_25457185del GRCh37
NC_000002.10:g.25310674_25310689del NCBI36
NG_029465.2:g.113275_113290del , LRG_459:g.113275_113290del

Transcript Alleles

HGVS Amino-acid Change
ENST00000474887.6:c.951_966del
ENST00000683393.1:c.1848_1863del ENSP00000508654.1:n.1848_1863del
ENST00000683760.1:c.2033_2048del ENSP00000507765.1:p.Leu678ArgfsTer16
ENST00000321117.10:c.2702_2717del MANE Select ENSP00000324375.5:p.Leu901ArgfsTer16
ENST00000264709.7:c.2702_2717del ENSP00000264709.3:p.Leu901ArgfsTer16
ENST00000321117.9:c.2702_2717del ENSP00000324375.5:p.Leu901ArgfsTer16
ENST00000380746.8:c.2135_2150del ENSP00000370122.4:p.Leu712ArgfsTer16
ENST00000380756.7:c.*555_*570del ENSP00000370132.3:n.*555_*570del
ENST00000402667.1:c.2033_2048del ENSP00000384237.1:p.Leu678ArgfsTer16
NM_022552.4:c.2702_2717del , LRG_459t1:c.2702_2717del NP_072046.2:p.Leu901ArgfsTer16
NM_153759.3:c.2135_2150del , LRG_459t2:c.2135_2150del NP_715640.2:p.Leu712ArgfsTer16
NM_175629.2:c.2702_2717del , LRG_459t4:c.2702_2717del NP_783328.1:p.Leu901ArgfsTer16
XM_005264175.3:c.2702_2717del XP_005264232.1:p.Leu901ArgfsTer16
XM_005264177.3:c.2033_2048del XP_005264234.1:p.Leu678ArgfsTer16
XM_006711958.2:c.2258_2273del XP_006712021.1:p.Leu753ArgfsTer16
XM_011532662.1:c.2555_2570del XP_011530964.1:p.Leu852ArgfsTer16
XM_011532663.1:c.2537_2552del XP_011530965.1:p.Leu846ArgfsTer16
XM_011532665.1:c.2246_2261del XP_011530967.1:p.Leu749ArgfsTer16
XM_011532666.1:c.2174_2189del XP_011530968.1:p.Leu725ArgfsTer16
XM_011532667.1:c.2033_2048del XP_011530969.1:p.Leu678ArgfsTer16
NM_001320893.1:c.2246_2261del NP_001307822.1:p.Leu749ArgfsTer16
NR_135490.1:n.3239_3254del
XM_005264175.5:c.2702_2717del XP_005264232.1:p.Leu901ArgfsTer16
XM_005264177.4:c.2033_2048del XP_005264234.1:p.Leu678ArgfsTer16
XM_011532662.2:c.2555_2570del XP_011530964.1:p.Leu852ArgfsTer16
XM_011532663.2:c.2537_2552del XP_011530965.1:p.Leu846ArgfsTer16
XM_011532666.2:c.2174_2189del XP_011530968.1:p.Leu725ArgfsTer16
XM_011532667.3:c.2033_2048del XP_011530969.1:p.Leu678ArgfsTer16
XM_017003526.1:c.2702_2717del XP_016859015.1:p.Leu901ArgfsTer16
XM_017003527.1:c.2033_2048del XP_016859016.1:p.Leu678ArgfsTer16
XR_001738657.1:n.2909_2924del
NM_001375819.1:c.2033_2048del NP_001362748.1:p.Leu678ArgfsTer16
NR_135490.2:n.3132_3147del
NM_022552.5:c.2702_2717del MANE Select NP_072046.2:p.Leu901ArgfsTer16