Canonical Allele Identifier: CA1555499

Gene: DNMT3A

Linked Data

• dbSNP Id: rs753089697
• ExAC: 2:25457282 CA / C
• gnomAD v2: 2-25457282-CA-C
• gnomAD v4: 2-25234413-CA-C
• MyVariant Identifiers: chr2:g.25457283del (hg19) ; chr2:g.25234414del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234416del , CM000664.2:g.25234416del	GRCh38
NC_000002.11:g.25457285del , CM000664.1:g.25457285del	GRCh37
NC_000002.10:g.25310789del	NCBI36
NG_029465.2:g.113177del , LRG_459:g.113177del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.853del
ENST00000683393.1:c.1750del	ENSP00000508654.1:n.1750del
ENST00000683760.1:c.1935del	ENSP00000507765.1:p.Phe645LeufsTer13
ENST00000321117.10:c.2604del MANE Select	ENSP00000324375.5:p.Phe868LeufsTer13
ENST00000264709.7:c.2604del	ENSP00000264709.3:p.Phe868LeufsTer13
ENST00000321117.9:c.2604del	ENSP00000324375.5:p.Phe868LeufsTer13
ENST00000380746.8:c.2037del	ENSP00000370122.4:p.Phe679LeufsTer13
ENST00000380756.7:c.*457del	ENSP00000370132.3:n.*457del
ENST00000402667.1:c.1935del	ENSP00000384237.1:p.Phe645LeufsTer13
NM_022552.4:c.2604del , LRG_459t1:c.2604del	NP_072046.2:p.Phe868LeufsTer13
NM_153759.3:c.2037del , LRG_459t2:c.2037del	NP_715640.2:p.Phe679LeufsTer13
NM_175629.2:c.2604del , LRG_459t4:c.2604del	NP_783328.1:p.Phe868LeufsTer13
XM_005264175.3:c.2604del	XP_005264232.1:p.Phe868LeufsTer13
XM_005264177.3:c.1935del	XP_005264234.1:p.Phe645LeufsTer13
XM_006711958.2:c.2160del	XP_006712021.1:p.Phe720LeufsTer13
XM_011532662.1:c.2457del	XP_011530964.1:p.Phe819LeufsTer13
XM_011532663.1:c.2439del	XP_011530965.1:p.Phe813LeufsTer13
XM_011532665.1:c.2148del	XP_011530967.1:p.Phe716LeufsTer13
XM_011532666.1:c.2076del	XP_011530968.1:p.Phe692LeufsTer13
XM_011532667.1:c.1935del	XP_011530969.1:p.Phe645LeufsTer13
NM_001320893.1:c.2148del	NP_001307822.1:p.Phe716LeufsTer13
NR_135490.1:n.3141del
XM_005264175.5:c.2604del	XP_005264232.1:p.Phe868LeufsTer13
XM_005264177.4:c.1935del	XP_005264234.1:p.Phe645LeufsTer13
XM_011532662.2:c.2457del	XP_011530964.1:p.Phe819LeufsTer13
XM_011532663.2:c.2439del	XP_011530965.1:p.Phe813LeufsTer13
XM_011532666.2:c.2076del	XP_011530968.1:p.Phe692LeufsTer13
XM_011532667.3:c.1935del	XP_011530969.1:p.Phe645LeufsTer13
XM_017003526.1:c.2604del	XP_016859015.1:p.Phe868LeufsTer13
XM_017003527.1:c.1935del	XP_016859016.1:p.Phe645LeufsTer13
XR_001738657.1:n.2811del
NM_001375819.1:c.1935del	NP_001362748.1:p.Phe645LeufsTer13
NR_135490.2:n.3034del
NM_022552.5:c.2604del MANE Select	NP_072046.2:p.Phe868LeufsTer13