Canonical Allele Identifier: CA2658172149

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25240368-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240370del , CM000664.2:g.25240370del	GRCh38
NC_000002.11:g.25463239del , CM000664.1:g.25463239del	GRCh37
NC_000002.10:g.25316743del	NCBI36
NG_029465.2:g.107222del , LRG_459:g.107222del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.574del
ENST00000683393.1:c.1401del	ENSP00000508654.1:n.1401del
ENST00000683760.1:c.1586del	ENSP00000507765.1:p.Phe529SerfsTer27
ENST00000321117.10:c.2255del MANE Select	ENSP00000324375.5:p.Phe752SerfsTer27
ENST00000264709.7:c.2255del	ENSP00000264709.3:p.Phe752SerfsTer27
ENST00000321117.9:c.2255del	ENSP00000324375.5:p.Phe752SerfsTer27
ENST00000380746.8:c.1688del	ENSP00000370122.4:p.Phe563SerfsTer27
ENST00000380756.7:c.2255del	ENSP00000370132.3:p.Phe752SerfsTer?
ENST00000402667.1:c.1586del	ENSP00000384237.1:p.Phe529SerfsTer27
ENST00000461228.1:n.474del
ENST00000466601.5:n.627del
ENST00000474887.5:n.574del
ENST00000482935.5:n.255del
ENST00000491288.5:n.310+271del
NM_022552.4:c.2255del , LRG_459t1:c.2255del	NP_072046.2:p.Phe752SerfsTer27
NM_153759.3:c.1688del , LRG_459t2:c.1688del	NP_715640.2:p.Phe563SerfsTer27
NM_175629.2:c.2255del , LRG_459t4:c.2255del	NP_783328.1:p.Phe752SerfsTer27
XM_005264175.3:c.2255del	XP_005264232.1:p.Phe752SerfsTer27
XM_005264177.3:c.1586del	XP_005264234.1:p.Phe529SerfsTer27
XM_006711957.2:c.2255del	XP_006712020.1:p.Phe752SerfsTer27
XM_006711958.2:c.1811del	XP_006712021.1:p.Phe604SerfsTer27
XM_011532662.1:c.2108del	XP_011530964.1:p.Phe703SerfsTer27
XM_011532663.1:c.2090del	XP_011530965.1:p.Phe697SerfsTer27
XM_011532664.1:c.2255del	XP_011530966.1:p.Phe752SerfsTer?
XM_011532665.1:c.1799del	XP_011530967.1:p.Phe600SerfsTer27
XM_011532666.1:c.1727del	XP_011530968.1:p.Phe576SerfsTer27
XM_011532667.1:c.1586del	XP_011530969.1:p.Phe529SerfsTer27
XM_011532668.1:c.2255del	XP_011530970.1:p.Phe752SerfsTer?
NM_001320893.1:c.1799del	NP_001307822.1:p.Phe600SerfsTer27
NR_135490.1:n.2593del
XM_005264175.5:c.2255del	XP_005264232.1:p.Phe752SerfsTer27
XM_005264177.4:c.1586del	XP_005264234.1:p.Phe529SerfsTer27
XM_011532662.2:c.2108del	XP_011530964.1:p.Phe703SerfsTer27
XM_011532663.2:c.2090del	XP_011530965.1:p.Phe697SerfsTer27
XM_011532664.2:c.2255del	XP_011530966.1:p.Phe752SerfsTer?
XM_011532666.2:c.1727del	XP_011530968.1:p.Phe576SerfsTer27
XM_011532667.3:c.1586del	XP_011530969.1:p.Phe529SerfsTer27
XM_017003526.1:c.2255del	XP_016859015.1:p.Phe752SerfsTer27
XM_017003527.1:c.1586del	XP_016859016.1:p.Phe529SerfsTer27
XR_001738657.1:n.2532del
NM_001375819.1:c.1586del	NP_001362748.1:p.Phe529SerfsTer27
NR_135490.2:n.2486del
NM_022552.5:c.2255del MANE Select	NP_072046.2:p.Phe752SerfsTer27