Canonical Allele Identifier: CA425180841

Gene: DNMT3A

Linked Data

• dbSNP Id: rs1673074622
• gnomAD v2: 2-25457180-CG-C
• gnomAD v3: 2-25234311-CG-C
• gnomAD v4: 2-25234311-CG-C
• COSMIC: COSM1166763 ; COSM1166764
• MyVariant Identifiers: chr2:g.25457181del (hg19) ; chr2:g.25234312del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234312del , CM000664.2:g.25234312del	GRCh38
NC_000002.11:g.25457181del , CM000664.1:g.25457181del	GRCh37
NC_000002.10:g.25310685del	NCBI36
NG_029465.2:g.113279del , LRG_459:g.113279del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.955del
ENST00000683393.1:c.1852del	ENSP00000508654.1:n.1852del
ENST00000683760.1:c.2037del	ENSP00000507765.1:p.Phe679LeufsTer4
ENST00000321117.10:c.2706del MANE Select	ENSP00000324375.5:p.Phe902LeufsTer4
ENST00000264709.7:c.2706del	ENSP00000264709.3:p.Phe902LeufsTer4
ENST00000321117.9:c.2706del	ENSP00000324375.5:p.Phe902LeufsTer4
ENST00000380746.8:c.2139del	ENSP00000370122.4:p.Phe713LeufsTer4
ENST00000380756.7:c.*559del	ENSP00000370132.3:n.*559del
ENST00000402667.1:c.2037del	ENSP00000384237.1:p.Phe679LeufsTer4
NM_022552.4:c.2706del , LRG_459t1:c.2706del	NP_072046.2:p.Phe902LeufsTer4
NM_153759.3:c.2139del , LRG_459t2:c.2139del	NP_715640.2:p.Phe713LeufsTer4
NM_175629.2:c.2706del , LRG_459t4:c.2706del	NP_783328.1:p.Phe902LeufsTer4
XM_005264175.3:c.2706del	XP_005264232.1:p.Phe902LeufsTer4
XM_005264177.3:c.2037del	XP_005264234.1:p.Phe679LeufsTer4
XM_006711958.2:c.2262del	XP_006712021.1:p.Phe754LeufsTer4
XM_011532662.1:c.2559del	XP_011530964.1:p.Phe853LeufsTer4
XM_011532663.1:c.2541del	XP_011530965.1:p.Phe847LeufsTer4
XM_011532665.1:c.2250del	XP_011530967.1:p.Phe750LeufsTer4
XM_011532666.1:c.2178del	XP_011530968.1:p.Phe726LeufsTer4
XM_011532667.1:c.2037del	XP_011530969.1:p.Phe679LeufsTer4
NM_001320893.1:c.2250del	NP_001307822.1:p.Phe750LeufsTer4
NR_135490.1:n.3243del
XM_005264175.5:c.2706del	XP_005264232.1:p.Phe902LeufsTer4
XM_005264177.4:c.2037del	XP_005264234.1:p.Phe679LeufsTer4
XM_011532662.2:c.2559del	XP_011530964.1:p.Phe853LeufsTer4
XM_011532663.2:c.2541del	XP_011530965.1:p.Phe847LeufsTer4
XM_011532666.2:c.2178del	XP_011530968.1:p.Phe726LeufsTer4
XM_011532667.3:c.2037del	XP_011530969.1:p.Phe679LeufsTer4
XM_017003526.1:c.2706del	XP_016859015.1:p.Phe902LeufsTer4
XM_017003527.1:c.2037del	XP_016859016.1:p.Phe679LeufsTer4
XR_001738657.1:n.2913del
NM_001375819.1:c.2037del	NP_001362748.1:p.Phe679LeufsTer4
NR_135490.2:n.3136del
NM_022552.5:c.2706del MANE Select	NP_072046.2:p.Phe902LeufsTer4