Canonical Allele Identifier: CA1556096

Gene: DNMT3A

Linked Data

• dbSNP Id: rs752298245
• ExAC: 2:25469503 AG / A
• gnomAD v2: 2-25469503-AG-A
• gnomAD v4: 2-25246634-AG-A
• MyVariant Identifiers: chr2:g.25469504del (hg19) ; chr2:g.25246635del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25246636del , CM000664.2:g.25246636del	GRCh38
NC_000002.11:g.25469505del , CM000664.1:g.25469505del	GRCh37
NC_000002.10:g.25323009del	NCBI36
NG_029465.2:g.100956del , LRG_459:g.100956del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683393.1:c.410del	ENSP00000508654.1:n.410del
ENST00000683760.1:c.595del	ENSP00000507765.1:p.Leu199TrpfsTer?
ENST00000321117.10:c.1264del MANE Select	ENSP00000324375.5:p.Leu422TrpfsTer?
ENST00000264709.7:c.1264del	ENSP00000264709.3:p.Leu422TrpfsTer?
ENST00000321117.9:c.1264del	ENSP00000324375.5:p.Leu422TrpfsTer?
ENST00000380746.8:c.697del	ENSP00000370122.4:p.Leu233TrpfsTer?
ENST00000380756.7:c.1264del	ENSP00000370132.3:p.Leu422TrpfsTer?
ENST00000402667.1:c.595del	ENSP00000384237.1:p.Leu199TrpfsTer?
ENST00000474807.5:n.559del
NM_022552.4:c.1264del , LRG_459t1:c.1264del	NP_072046.2:p.Leu422TrpfsTer?
NM_153759.3:c.697del , LRG_459t2:c.697del	NP_715640.2:p.Leu233TrpfsTer?
NM_175629.2:c.1264del , LRG_459t4:c.1264del	NP_783328.1:p.Leu422TrpfsTer?
XM_005264175.3:c.1264del	XP_005264232.1:p.Leu422TrpfsTer?
XM_005264177.3:c.595del	XP_005264234.1:p.Leu199TrpfsTer?
XM_006711957.2:c.1264del	XP_006712020.1:p.Leu422TrpfsTer?
XM_006711958.2:c.820del	XP_006712021.1:p.Leu274TrpfsTer?
XM_011532662.1:c.1117del	XP_011530964.1:p.Leu373TrpfsTer?
XM_011532663.1:c.1099del	XP_011530965.1:p.Leu367TrpfsTer?
XM_011532664.1:c.1264del	XP_011530966.1:p.Leu422TrpfsTer?
XM_011532665.1:c.808del	XP_011530967.1:p.Leu270TrpfsTer?
XM_011532666.1:c.736del	XP_011530968.1:p.Leu246TrpfsTer?
XM_011532667.1:c.595del	XP_011530969.1:p.Leu199TrpfsTer?
XM_011532668.1:c.1264del	XP_011530970.1:p.Leu422TrpfsTer?
NM_001320893.1:c.808del	NP_001307822.1:p.Leu270TrpfsTer?
NR_135490.1:n.1602del
XM_005264175.5:c.1264del	XP_005264232.1:p.Leu422TrpfsTer?
XM_005264177.4:c.595del	XP_005264234.1:p.Leu199TrpfsTer?
XM_011532662.2:c.1117del	XP_011530964.1:p.Leu373TrpfsTer?
XM_011532663.2:c.1099del	XP_011530965.1:p.Leu367TrpfsTer?
XM_011532664.2:c.1264del	XP_011530966.1:p.Leu422TrpfsTer?
XM_011532666.2:c.736del	XP_011530968.1:p.Leu246TrpfsTer?
XM_011532667.3:c.595del	XP_011530969.1:p.Leu199TrpfsTer?
XM_017003526.1:c.1264del	XP_016859015.1:p.Leu422TrpfsTer?
XM_017003527.1:c.595del	XP_016859016.1:p.Leu199TrpfsTer?
XR_001738657.1:n.1541del
NM_001375819.1:c.595del	NP_001362748.1:p.Leu199TrpfsTer?
NR_135490.2:n.1495del
NM_022552.5:c.1264del MANE Select	NP_072046.2:p.Leu422TrpfsTer?