Canonical Allele Identifier: CA2658168272

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25234354-C-CAG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234355_25234356dup , CM000664.2:g.25234355_25234356dup	GRCh38
NC_000002.11:g.25457224_25457225dup , CM000664.1:g.25457224_25457225dup	GRCh37
NC_000002.10:g.25310728_25310729dup	NCBI36
NG_029465.2:g.113235_113236dup , LRG_459:g.113235_113236dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.911_912dup
ENST00000683393.1:c.1808_1809dup	ENSP00000508654.1:n.1808_1809dup
ENST00000683760.1:c.1993_1994dup	ENSP00000507765.1:p.Leu666CysfsTer18
ENST00000321117.10:c.2662_2663dup MANE Select	ENSP00000324375.5:p.Leu889CysfsTer18
ENST00000264709.7:c.2662_2663dup	ENSP00000264709.3:p.Leu889CysfsTer18
ENST00000321117.9:c.2662_2663dup	ENSP00000324375.5:p.Leu889CysfsTer18
ENST00000380746.8:c.2095_2096dup	ENSP00000370122.4:p.Leu700CysfsTer18
ENST00000380756.7:c.*515_*516dup	ENSP00000370132.3:n.*515_*516dup
ENST00000402667.1:c.1993_1994dup	ENSP00000384237.1:p.Leu666CysfsTer18
NM_022552.4:c.2662_2663dup , LRG_459t1:c.2662_2663dup	NP_072046.2:p.Leu889CysfsTer18
NM_153759.3:c.2095_2096dup , LRG_459t2:c.2095_2096dup	NP_715640.2:p.Leu700CysfsTer18
NM_175629.2:c.2662_2663dup , LRG_459t4:c.2662_2663dup	NP_783328.1:p.Leu889CysfsTer18
XM_005264175.3:c.2662_2663dup	XP_005264232.1:p.Leu889CysfsTer18
XM_005264177.3:c.1993_1994dup	XP_005264234.1:p.Leu666CysfsTer18
XM_006711958.2:c.2218_2219dup	XP_006712021.1:p.Leu741CysfsTer18
XM_011532662.1:c.2515_2516dup	XP_011530964.1:p.Leu840CysfsTer18
XM_011532663.1:c.2497_2498dup	XP_011530965.1:p.Leu834CysfsTer18
XM_011532665.1:c.2206_2207dup	XP_011530967.1:p.Leu737CysfsTer18
XM_011532666.1:c.2134_2135dup	XP_011530968.1:p.Leu713CysfsTer18
XM_011532667.1:c.1993_1994dup	XP_011530969.1:p.Leu666CysfsTer18
NM_001320893.1:c.2206_2207dup	NP_001307822.1:p.Leu737CysfsTer18
NR_135490.1:n.3199_3200dup
XM_005264175.5:c.2662_2663dup	XP_005264232.1:p.Leu889CysfsTer18
XM_005264177.4:c.1993_1994dup	XP_005264234.1:p.Leu666CysfsTer18
XM_011532662.2:c.2515_2516dup	XP_011530964.1:p.Leu840CysfsTer18
XM_011532663.2:c.2497_2498dup	XP_011530965.1:p.Leu834CysfsTer18
XM_011532666.2:c.2134_2135dup	XP_011530968.1:p.Leu713CysfsTer18
XM_011532667.3:c.1993_1994dup	XP_011530969.1:p.Leu666CysfsTer18
XM_017003526.1:c.2662_2663dup	XP_016859015.1:p.Leu889CysfsTer18
XM_017003527.1:c.1993_1994dup	XP_016859016.1:p.Leu666CysfsTer18
XR_001738657.1:n.2869_2870dup
NM_001375819.1:c.1993_1994dup	NP_001362748.1:p.Leu666CysfsTer18
NR_135490.2:n.3092_3093dup
NM_022552.5:c.2662_2663dup MANE Select	NP_072046.2:p.Leu889CysfsTer18