Canonical Allele Identifier: CA2576693565

Gene: DNMT3A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234326_25234328dup , CM000664.2:g.25234326_25234328dup	GRCh38
NC_000002.11:g.25457195_25457197dup , CM000664.1:g.25457195_25457197dup	GRCh37
NC_000002.10:g.25310699_25310701dup	NCBI36
NG_029465.2:g.113265_113267dup , LRG_459:g.113265_113267dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.941_943dup
ENST00000683393.1:c.1838_1840dup	ENSP00000508654.1:n.1838_1840dup
ENST00000683760.1:c.2023_2025dup	ENSP00000507765.1:p.Ile675_Arg676insIle
ENST00000321117.10:c.2692_2694dup MANE Select	ENSP00000324375.5:p.Ile898_Arg899insIle
ENST00000264709.7:c.2692_2694dup	ENSP00000264709.3:p.Ile898_Arg899insIle
ENST00000321117.9:c.2692_2694dup	ENSP00000324375.5:p.Ile898_Arg899insIle
ENST00000380746.8:c.2125_2127dup	ENSP00000370122.4:p.Ile709_Arg710insIle
ENST00000380756.7:c.*545_*547dup	ENSP00000370132.3:n.*545_*547dup
ENST00000402667.1:c.2023_2025dup	ENSP00000384237.1:p.Ile675_Arg676insIle
NM_022552.4:c.2692_2694dup , LRG_459t1:c.2692_2694dup	NP_072046.2:p.Ile898_Arg899insIle
NM_153759.3:c.2125_2127dup , LRG_459t2:c.2125_2127dup	NP_715640.2:p.Ile709_Arg710insIle
NM_175629.2:c.2692_2694dup , LRG_459t4:c.2692_2694dup	NP_783328.1:p.Ile898_Arg899insIle
XM_005264175.3:c.2692_2694dup	XP_005264232.1:p.Ile898_Arg899insIle
XM_005264177.3:c.2023_2025dup	XP_005264234.1:p.Ile675_Arg676insIle
XM_006711958.2:c.2248_2250dup	XP_006712021.1:p.Ile750_Arg751insIle
XM_011532662.1:c.2545_2547dup	XP_011530964.1:p.Ile849_Arg850insIle
XM_011532663.1:c.2527_2529dup	XP_011530965.1:p.Ile843_Arg844insIle
XM_011532665.1:c.2236_2238dup	XP_011530967.1:p.Ile746_Arg747insIle
XM_011532666.1:c.2164_2166dup	XP_011530968.1:p.Ile722_Arg723insIle
XM_011532667.1:c.2023_2025dup	XP_011530969.1:p.Ile675_Arg676insIle
NM_001320893.1:c.2236_2238dup	NP_001307822.1:p.Ile746_Arg747insIle
NR_135490.1:n.3229_3231dup
XM_005264175.5:c.2692_2694dup	XP_005264232.1:p.Ile898_Arg899insIle
XM_005264177.4:c.2023_2025dup	XP_005264234.1:p.Ile675_Arg676insIle
XM_011532662.2:c.2545_2547dup	XP_011530964.1:p.Ile849_Arg850insIle
XM_011532663.2:c.2527_2529dup	XP_011530965.1:p.Ile843_Arg844insIle
XM_011532666.2:c.2164_2166dup	XP_011530968.1:p.Ile722_Arg723insIle
XM_011532667.3:c.2023_2025dup	XP_011530969.1:p.Ile675_Arg676insIle
XM_017003526.1:c.2692_2694dup	XP_016859015.1:p.Ile898_Arg899insIle
XM_017003527.1:c.2023_2025dup	XP_016859016.1:p.Ile675_Arg676insIle
XR_001738657.1:n.2899_2901dup
NM_001375819.1:c.2023_2025dup	NP_001362748.1:p.Ile675_Arg676insIle
NR_135490.2:n.3122_3124dup
NM_022552.5:c.2692_2694dup MANE Select	NP_072046.2:p.Ile898_Arg899insIle