Canonical Allele Identifier: CA2658171799

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25240314-C-CGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240315_25240317dup , CM000664.2:g.25240315_25240317dup	GRCh38
NC_000002.11:g.25463184_25463186dup , CM000664.1:g.25463184_25463186dup	GRCh37
NC_000002.10:g.25316688_25316690dup	NCBI36
NG_029465.2:g.107274_107276dup , LRG_459:g.107274_107276dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000474887.6:c.626_628dup
ENST00000683393.1:c.1453_1455dup	ENSP00000508654.1:n.1453_1455dup
ENST00000683760.1:c.1638_1640dup	ENSP00000507765.1:p.Ser547_Arg548insSer
ENST00000321117.10:c.2307_2309dup MANE Select	ENSP00000324375.5:p.Ser770_Arg771insSer
ENST00000264709.7:c.2307_2309dup	ENSP00000264709.3:p.Ser770_Arg771insSer
ENST00000321117.9:c.2307_2309dup	ENSP00000324375.5:p.Ser770_Arg771insSer
ENST00000380746.8:c.1740_1742dup	ENSP00000370122.4:p.Ser581_Arg582insSer
ENST00000380756.7:c.2307_2309dup	ENSP00000370132.3:p.Ser770_Arg771insSer
ENST00000402667.1:c.1638_1640dup	ENSP00000384237.1:p.Ser547_Arg548insSer
ENST00000461228.1:n.526_528dup
ENST00000466601.5:n.679_681dup
ENST00000474887.5:n.626_628dup
ENST00000482935.5:n.307_309dup
ENST00000491288.5:n.310+323_310+325dup
NM_022552.4:c.2307_2309dup , LRG_459t1:c.2307_2309dup	NP_072046.2:p.Ser770_Arg771insSer
NM_153759.3:c.1740_1742dup , LRG_459t2:c.1740_1742dup	NP_715640.2:p.Ser581_Arg582insSer
NM_175629.2:c.2307_2309dup , LRG_459t4:c.2307_2309dup	NP_783328.1:p.Ser770_Arg771insSer
XM_005264175.3:c.2307_2309dup	XP_005264232.1:p.Ser770_Arg771insSer
XM_005264177.3:c.1638_1640dup	XP_005264234.1:p.Ser547_Arg548insSer
XM_006711957.2:c.2307_2309dup	XP_006712020.1:p.Ser770_Arg771insSer
XM_006711958.2:c.1863_1865dup	XP_006712021.1:p.Ser622_Arg623insSer
XM_011532662.1:c.2160_2162dup	XP_011530964.1:p.Ser721_Arg722insSer
XM_011532663.1:c.2142_2144dup	XP_011530965.1:p.Ser715_Arg716insSer
XM_011532664.1:c.2307_2309dup	XP_011530966.1:p.Ser770_Arg771insSer
XM_011532665.1:c.1851_1853dup	XP_011530967.1:p.Ser618_Arg619insSer
XM_011532666.1:c.1779_1781dup	XP_011530968.1:p.Ser594_Arg595insSer
XM_011532667.1:c.1638_1640dup	XP_011530969.1:p.Ser547_Arg548insSer
XM_011532668.1:c.2307_2309dup	XP_011530970.1:p.Ser770_Arg771insSer
NM_001320893.1:c.1851_1853dup	NP_001307822.1:p.Ser618_Arg619insSer
NR_135490.1:n.2645_2647dup
XM_005264175.5:c.2307_2309dup	XP_005264232.1:p.Ser770_Arg771insSer
XM_005264177.4:c.1638_1640dup	XP_005264234.1:p.Ser547_Arg548insSer
XM_011532662.2:c.2160_2162dup	XP_011530964.1:p.Ser721_Arg722insSer
XM_011532663.2:c.2142_2144dup	XP_011530965.1:p.Ser715_Arg716insSer
XM_011532664.2:c.2307_2309dup	XP_011530966.1:p.Ser770_Arg771insSer
XM_011532666.2:c.1779_1781dup	XP_011530968.1:p.Ser594_Arg595insSer
XM_011532667.3:c.1638_1640dup	XP_011530969.1:p.Ser547_Arg548insSer
XM_017003526.1:c.2307_2309dup	XP_016859015.1:p.Ser770_Arg771insSer
XM_017003527.1:c.1638_1640dup	XP_016859016.1:p.Ser547_Arg548insSer
XR_001738657.1:n.2584_2586dup
NM_001375819.1:c.1638_1640dup	NP_001362748.1:p.Ser547_Arg548insSer
NR_135490.2:n.2538_2540dup
NM_022552.5:c.2307_2309dup MANE Select	NP_072046.2:p.Ser770_Arg771insSer