Canonical Allele Identifier: CA1555678

Gene: DNMT3A

Linked Data

• dbSNP Id: rs770968422
• ExAC: 2:25463236 AG / A
• gnomAD v2: 2-25463236-AG-A
• gnomAD v4: 2-25240367-AG-A
• MyVariant Identifiers: chr2:g.25463237del (hg19) ; chr2:g.25240368del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240368del , CM000664.2:g.25240368del	GRCh38
NC_000002.11:g.25463237del , CM000664.1:g.25463237del	GRCh37
NC_000002.10:g.25316741del	NCBI36
NG_029465.2:g.107223del , LRG_459:g.107223del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.575del
ENST00000683393.1:c.1402del	ENSP00000508654.1:n.1402del
ENST00000683760.1:c.1587del	ENSP00000507765.1:p.Trp530GlyfsTer26
ENST00000321117.10:c.2256del MANE Select	ENSP00000324375.5:p.Trp753GlyfsTer26
ENST00000264709.7:c.2256del	ENSP00000264709.3:p.Trp753GlyfsTer26
ENST00000321117.9:c.2256del	ENSP00000324375.5:p.Trp753GlyfsTer26
ENST00000380746.8:c.1689del	ENSP00000370122.4:p.Trp564GlyfsTer26
ENST00000380756.7:c.2256del	ENSP00000370132.3:p.Trp753GlyfsTer?
ENST00000402667.1:c.1587del	ENSP00000384237.1:p.Trp530GlyfsTer26
ENST00000461228.1:n.475del
ENST00000466601.5:n.628del
ENST00000474887.5:n.575del
ENST00000482935.5:n.256del
ENST00000491288.5:n.310+272del
NM_022552.4:c.2256del , LRG_459t1:c.2256del	NP_072046.2:p.Trp753GlyfsTer26
NM_153759.3:c.1689del , LRG_459t2:c.1689del	NP_715640.2:p.Trp564GlyfsTer26
NM_175629.2:c.2256del , LRG_459t4:c.2256del	NP_783328.1:p.Trp753GlyfsTer26
XM_005264175.3:c.2256del	XP_005264232.1:p.Trp753GlyfsTer26
XM_005264177.3:c.1587del	XP_005264234.1:p.Trp530GlyfsTer26
XM_006711957.2:c.2256del	XP_006712020.1:p.Trp753GlyfsTer26
XM_006711958.2:c.1812del	XP_006712021.1:p.Trp605GlyfsTer26
XM_011532662.1:c.2109del	XP_011530964.1:p.Trp704GlyfsTer26
XM_011532663.1:c.2091del	XP_011530965.1:p.Trp698GlyfsTer26
XM_011532664.1:c.2256del	XP_011530966.1:p.Trp753GlyfsTer?
XM_011532665.1:c.1800del	XP_011530967.1:p.Trp601GlyfsTer26
XM_011532666.1:c.1728del	XP_011530968.1:p.Trp577GlyfsTer26
XM_011532667.1:c.1587del	XP_011530969.1:p.Trp530GlyfsTer26
XM_011532668.1:c.2256del	XP_011530970.1:p.Trp753GlyfsTer?
NM_001320893.1:c.1800del	NP_001307822.1:p.Trp601GlyfsTer26
NR_135490.1:n.2594del
XM_005264175.5:c.2256del	XP_005264232.1:p.Trp753GlyfsTer26
XM_005264177.4:c.1587del	XP_005264234.1:p.Trp530GlyfsTer26
XM_011532662.2:c.2109del	XP_011530964.1:p.Trp704GlyfsTer26
XM_011532663.2:c.2091del	XP_011530965.1:p.Trp698GlyfsTer26
XM_011532664.2:c.2256del	XP_011530966.1:p.Trp753GlyfsTer?
XM_011532666.2:c.1728del	XP_011530968.1:p.Trp577GlyfsTer26
XM_011532667.3:c.1587del	XP_011530969.1:p.Trp530GlyfsTer26
XM_017003526.1:c.2256del	XP_016859015.1:p.Trp753GlyfsTer26
XM_017003527.1:c.1587del	XP_016859016.1:p.Trp530GlyfsTer26
XR_001738657.1:n.2533del
NM_001375819.1:c.1587del	NP_001362748.1:p.Trp530GlyfsTer26
NR_135490.2:n.2487del
NM_022552.5:c.2256del MANE Select	NP_072046.2:p.Trp753GlyfsTer26