Canonical Allele Identifier: CA2658171807

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25240315-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240316del , CM000664.2:g.25240316del	GRCh38
NC_000002.11:g.25463185del , CM000664.1:g.25463185del	GRCh37
NC_000002.10:g.25316689del	NCBI36
NG_029465.2:g.107275del , LRG_459:g.107275del

Transcript Alleles

HGVS	Amino-acid change
ENST00000474887.6:c.627del
ENST00000683393.1:c.1454del	ENSP00000508654.1:n.1454del
ENST00000683760.1:c.1639del	ENSP00000507765.1:p.Ser547ArgfsTer9
ENST00000321117.10:c.2308del MANE Select	ENSP00000324375.5:p.Ser770ArgfsTer9
ENST00000264709.7:c.2308del	ENSP00000264709.3:p.Ser770ArgfsTer9
ENST00000321117.9:c.2308del	ENSP00000324375.5:p.Ser770ArgfsTer9
ENST00000380746.8:c.1741del	ENSP00000370122.4:p.Ser581ArgfsTer9
ENST00000380756.7:c.2308del	ENSP00000370132.3:p.Ser770ArgfsTer?
ENST00000402667.1:c.1639del	ENSP00000384237.1:p.Ser547ArgfsTer9
ENST00000461228.1:n.527del
ENST00000466601.5:n.680del
ENST00000474887.5:n.627del
ENST00000482935.5:n.308del
ENST00000491288.5:n.310+324del
NM_022552.4:c.2308del , LRG_459t1:c.2308del	NP_072046.2:p.Ser770ArgfsTer9
NM_153759.3:c.1741del , LRG_459t2:c.1741del	NP_715640.2:p.Ser581ArgfsTer9
NM_175629.2:c.2308del , LRG_459t4:c.2308del	NP_783328.1:p.Ser770ArgfsTer9
XM_005264175.3:c.2308del	XP_005264232.1:p.Ser770ArgfsTer9
XM_005264177.3:c.1639del	XP_005264234.1:p.Ser547ArgfsTer9
XM_006711957.2:c.2308del	XP_006712020.1:p.Ser770ArgfsTer9
XM_006711958.2:c.1864del	XP_006712021.1:p.Ser622ArgfsTer9
XM_011532662.1:c.2161del	XP_011530964.1:p.Ser721ArgfsTer9
XM_011532663.1:c.2143del	XP_011530965.1:p.Ser715ArgfsTer9
XM_011532664.1:c.2308del	XP_011530966.1:p.Ser770ArgfsTer?
XM_011532665.1:c.1852del	XP_011530967.1:p.Ser618ArgfsTer9
XM_011532666.1:c.1780del	XP_011530968.1:p.Ser594ArgfsTer9
XM_011532667.1:c.1639del	XP_011530969.1:p.Ser547ArgfsTer9
XM_011532668.1:c.2308del	XP_011530970.1:p.Ser770ArgfsTer?
NM_001320893.1:c.1852del	NP_001307822.1:p.Ser618ArgfsTer9
NR_135490.1:n.2646del
XM_005264175.5:c.2308del	XP_005264232.1:p.Ser770ArgfsTer9
XM_005264177.4:c.1639del	XP_005264234.1:p.Ser547ArgfsTer9
XM_011532662.2:c.2161del	XP_011530964.1:p.Ser721ArgfsTer9
XM_011532663.2:c.2143del	XP_011530965.1:p.Ser715ArgfsTer9
XM_011532664.2:c.2308del	XP_011530966.1:p.Ser770ArgfsTer?
XM_011532666.2:c.1780del	XP_011530968.1:p.Ser594ArgfsTer9
XM_011532667.3:c.1639del	XP_011530969.1:p.Ser547ArgfsTer9
XM_017003526.1:c.2308del	XP_016859015.1:p.Ser770ArgfsTer9
XM_017003527.1:c.1639del	XP_016859016.1:p.Ser547ArgfsTer9
XR_001738657.1:n.2585del
NM_001375819.1:c.1639del	NP_001362748.1:p.Ser547ArgfsTer9
NR_135490.2:n.2539del
NM_022552.5:c.2308del MANE Select	NP_072046.2:p.Ser770ArgfsTer9