Canonical Allele Identifier: CA1555497

Gene: DNMT3A

Linked Data

• dbSNP Id: rs760010938
• ExAC: 2:25457274 TG / T
• gnomAD v2: 2-25457274-TG-T
• gnomAD v4: 2-25234405-TG-T
• MyVariant Identifiers: chr2:g.25457275del (hg19) ; chr2:g.25234406del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25234408del , CM000664.2:g.25234408del	GRCh38
NC_000002.11:g.25457277del , CM000664.1:g.25457277del	GRCh37
NC_000002.10:g.25310781del	NCBI36
NG_029465.2:g.113185del , LRG_459:g.113185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.861del
ENST00000683393.1:c.1758del	ENSP00000508654.1:n.1758del
ENST00000683760.1:c.1943del	ENSP00000507765.1:p.Pro648GlnfsTer10
ENST00000321117.10:c.2612del MANE Select	ENSP00000324375.5:p.Pro871GlnfsTer10
ENST00000264709.7:c.2612del	ENSP00000264709.3:p.Pro871GlnfsTer10
ENST00000321117.9:c.2612del	ENSP00000324375.5:p.Pro871GlnfsTer10
ENST00000380746.8:c.2045del	ENSP00000370122.4:p.Pro682GlnfsTer10
ENST00000380756.7:c.*465del	ENSP00000370132.3:n.*465del
ENST00000402667.1:c.1943del	ENSP00000384237.1:p.Pro648GlnfsTer10
NM_022552.4:c.2612del , LRG_459t1:c.2612del	NP_072046.2:p.Pro871GlnfsTer10
NM_153759.3:c.2045del , LRG_459t2:c.2045del	NP_715640.2:p.Pro682GlnfsTer10
NM_175629.2:c.2612del , LRG_459t4:c.2612del	NP_783328.1:p.Pro871GlnfsTer10
XM_005264175.3:c.2612del	XP_005264232.1:p.Pro871GlnfsTer10
XM_005264177.3:c.1943del	XP_005264234.1:p.Pro648GlnfsTer10
XM_006711958.2:c.2168del	XP_006712021.1:p.Pro723GlnfsTer10
XM_011532662.1:c.2465del	XP_011530964.1:p.Pro822GlnfsTer10
XM_011532663.1:c.2447del	XP_011530965.1:p.Pro816GlnfsTer10
XM_011532665.1:c.2156del	XP_011530967.1:p.Pro719GlnfsTer10
XM_011532666.1:c.2084del	XP_011530968.1:p.Pro695GlnfsTer10
XM_011532667.1:c.1943del	XP_011530969.1:p.Pro648GlnfsTer10
NM_001320893.1:c.2156del	NP_001307822.1:p.Pro719GlnfsTer10
NR_135490.1:n.3149del
XM_005264175.5:c.2612del	XP_005264232.1:p.Pro871GlnfsTer10
XM_005264177.4:c.1943del	XP_005264234.1:p.Pro648GlnfsTer10
XM_011532662.2:c.2465del	XP_011530964.1:p.Pro822GlnfsTer10
XM_011532663.2:c.2447del	XP_011530965.1:p.Pro816GlnfsTer10
XM_011532666.2:c.2084del	XP_011530968.1:p.Pro695GlnfsTer10
XM_011532667.3:c.1943del	XP_011530969.1:p.Pro648GlnfsTer10
XM_017003526.1:c.2612del	XP_016859015.1:p.Pro871GlnfsTer10
XM_017003527.1:c.1943del	XP_016859016.1:p.Pro648GlnfsTer10
XR_001738657.1:n.2819del
NM_001375819.1:c.1943del	NP_001362748.1:p.Pro648GlnfsTer10
NR_135490.2:n.3042del
NM_022552.5:c.2612del MANE Select	NP_072046.2:p.Pro871GlnfsTer10