Canonical Allele Identifier: CA2658171651

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25240302-C-CTCGAGAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240306_25240313dup , CM000664.2:g.25240306_25240313dup	GRCh38
NC_000002.11:g.25463175_25463182dup , CM000664.1:g.25463175_25463182dup	GRCh37
NC_000002.10:g.25316679_25316686dup	NCBI36
NG_029465.2:g.107281_107288dup , LRG_459:g.107281_107288dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000474887.6:c.633_640dup
ENST00000683393.1:c.1460_1467dup	ENSP00000508654.1:n.1460_1467dup
ENST00000683760.1:c.1645_1652dup	ENSP00000507765.1:p.Glu551AspfsTer8
ENST00000321117.10:c.2314_2321dup MANE Select	ENSP00000324375.5:p.Glu774AspfsTer8
ENST00000264709.7:c.2314_2321dup	ENSP00000264709.3:p.Glu774AspfsTer8
ENST00000321117.9:c.2314_2321dup	ENSP00000324375.5:p.Glu774AspfsTer8
ENST00000380746.8:c.1747_1754dup	ENSP00000370122.4:p.Glu585AspfsTer8
ENST00000380756.7:c.2314_2321dup	ENSP00000370132.3:p.Glu774AspfsTer?
ENST00000402667.1:c.1645_1652dup	ENSP00000384237.1:p.Glu551AspfsTer8
ENST00000461228.1:n.533_540dup
ENST00000466601.5:n.686_693dup
ENST00000474887.5:n.633_640dup
ENST00000482935.5:n.314_321dup
ENST00000491288.5:n.310+330_310+337dup
NM_022552.4:c.2314_2321dup , LRG_459t1:c.2314_2321dup	NP_072046.2:p.Glu774AspfsTer8
NM_153759.3:c.1747_1754dup , LRG_459t2:c.1747_1754dup	NP_715640.2:p.Glu585AspfsTer8
NM_175629.2:c.2314_2321dup , LRG_459t4:c.2314_2321dup	NP_783328.1:p.Glu774AspfsTer8
XM_005264175.3:c.2314_2321dup	XP_005264232.1:p.Glu774AspfsTer8
XM_005264177.3:c.1645_1652dup	XP_005264234.1:p.Glu551AspfsTer8
XM_006711957.2:c.2314_2321dup	XP_006712020.1:p.Glu774AspfsTer8
XM_006711958.2:c.1870_1877dup	XP_006712021.1:p.Glu626AspfsTer8
XM_011532662.1:c.2167_2174dup	XP_011530964.1:p.Glu725AspfsTer8
XM_011532663.1:c.2149_2156dup	XP_011530965.1:p.Glu719AspfsTer8
XM_011532664.1:c.2314_2321dup	XP_011530966.1:p.Glu774AspfsTer?
XM_011532665.1:c.1858_1865dup	XP_011530967.1:p.Glu622AspfsTer8
XM_011532666.1:c.1786_1793dup	XP_011530968.1:p.Glu598AspfsTer8
XM_011532667.1:c.1645_1652dup	XP_011530969.1:p.Glu551AspfsTer8
XM_011532668.1:c.2314_2321dup	XP_011530970.1:p.Glu774AspfsTer?
NM_001320893.1:c.1858_1865dup	NP_001307822.1:p.Glu622AspfsTer8
NR_135490.1:n.2652_2659dup
XM_005264175.5:c.2314_2321dup	XP_005264232.1:p.Glu774AspfsTer8
XM_005264177.4:c.1645_1652dup	XP_005264234.1:p.Glu551AspfsTer8
XM_011532662.2:c.2167_2174dup	XP_011530964.1:p.Glu725AspfsTer8
XM_011532663.2:c.2149_2156dup	XP_011530965.1:p.Glu719AspfsTer8
XM_011532664.2:c.2314_2321dup	XP_011530966.1:p.Glu774AspfsTer?
XM_011532666.2:c.1786_1793dup	XP_011530968.1:p.Glu598AspfsTer8
XM_011532667.3:c.1645_1652dup	XP_011530969.1:p.Glu551AspfsTer8
XM_017003526.1:c.2314_2321dup	XP_016859015.1:p.Glu774AspfsTer8
XM_017003527.1:c.1645_1652dup	XP_016859016.1:p.Glu551AspfsTer8
XR_001738657.1:n.2591_2598dup
NM_001375819.1:c.1645_1652dup	NP_001362748.1:p.Glu551AspfsTer8
NR_135490.2:n.2545_2552dup
NM_022552.5:c.2314_2321dup MANE Select	NP_072046.2:p.Glu774AspfsTer8