Canonical Allele Identifier: CA2573050554

Gene: DNMT3A

Linked Data

• ClinVar Variation Id: 1342607
• ClinVar RCV Id: RCV001839358
• dbSNP Id: rs2149289125

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25244216del , CM000664.2:g.25244216del	GRCh38
NC_000002.11:g.25467085del , CM000664.1:g.25467085del	GRCh37
NC_000002.10:g.25320589del	NCBI36
NG_029465.2:g.103376del , LRG_459:g.103376del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.110del
ENST00000683393.1:c.937del	ENSP00000508654.1:n.937del
ENST00000683760.1:c.1122del	ENSP00000507765.1:p.Arg375GlufsTer?
ENST00000321117.10:c.1791del MANE Select	ENSP00000324375.5:p.Arg598GlufsTer?
ENST00000264709.7:c.1791del	ENSP00000264709.3:p.Arg598GlufsTer?
ENST00000321117.9:c.1791del	ENSP00000324375.5:p.Arg598GlufsTer?
ENST00000380746.8:c.1224del	ENSP00000370122.4:p.Arg409GlufsTer?
ENST00000380756.7:c.1791del	ENSP00000370132.3:p.Arg598GlufsTer?
ENST00000402667.1:c.1122del	ENSP00000384237.1:p.Arg375GlufsTer?
ENST00000474887.5:n.110del
NM_022552.4:c.1791del , LRG_459t1:c.1791del	NP_072046.2:p.Arg598GlufsTer?
NM_153759.3:c.1224del , LRG_459t2:c.1224del	NP_715640.2:p.Arg409GlufsTer?
NM_175629.2:c.1791del , LRG_459t4:c.1791del	NP_783328.1:p.Arg598GlufsTer?
XM_005264175.3:c.1791del	XP_005264232.1:p.Arg598GlufsTer?
XM_005264177.3:c.1122del	XP_005264234.1:p.Arg375GlufsTer?
XM_006711957.2:c.1791del	XP_006712020.1:p.Arg598GlufsTer?
XM_006711958.2:c.1347del	XP_006712021.1:p.Arg450GlufsTer?
XM_011532662.1:c.1644del	XP_011530964.1:p.Arg549GlufsTer?
XM_011532663.1:c.1626del	XP_011530965.1:p.Arg543GlufsTer?
XM_011532664.1:c.1791del	XP_011530966.1:p.Arg598GlufsTer?
XM_011532665.1:c.1335del	XP_011530967.1:p.Arg446GlufsTer?
XM_011532666.1:c.1263del	XP_011530968.1:p.Arg422GlufsTer?
XM_011532667.1:c.1122del	XP_011530969.1:p.Arg375GlufsTer?
XM_011532668.1:c.1791del	XP_011530970.1:p.Arg598GlufsTer?
NM_001320893.1:c.1335del	NP_001307822.1:p.Arg446GlufsTer?
NR_135490.1:n.2129del
XM_005264175.5:c.1791del	XP_005264232.1:p.Arg598GlufsTer?
XM_005264177.4:c.1122del	XP_005264234.1:p.Arg375GlufsTer?
XM_011532662.2:c.1644del	XP_011530964.1:p.Arg549GlufsTer?
XM_011532663.2:c.1626del	XP_011530965.1:p.Arg543GlufsTer?
XM_011532664.2:c.1791del	XP_011530966.1:p.Arg598GlufsTer?
XM_011532666.2:c.1263del	XP_011530968.1:p.Arg422GlufsTer?
XM_011532667.3:c.1122del	XP_011530969.1:p.Arg375GlufsTer?
XM_017003526.1:c.1791del	XP_016859015.1:p.Arg598GlufsTer?
XM_017003527.1:c.1122del	XP_016859016.1:p.Arg375GlufsTer?
XR_001738657.1:n.2068del
NM_001375819.1:c.1122del	NP_001362748.1:p.Arg375GlufsTer?
NR_135490.2:n.2022del
NM_022552.5:c.1791del MANE Select	NP_072046.2:p.Arg598GlufsTer?