Canonical Allele Identifier: CA2699054553

Gene: DNMT3A

Linked Data

• dbSNP Id: rs2149271877

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25240388_25240392del , CM000664.2:g.25240388_25240392del	GRCh38
NC_000002.11:g.25463257_25463261del , CM000664.1:g.25463257_25463261del	GRCh37
NC_000002.10:g.25316761_25316765del	NCBI36
NG_029465.2:g.107200_107204del , LRG_459:g.107200_107204del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.552_556del
ENST00000683393.1:c.1379_1383del	ENSP00000508654.1:n.1379_1383del
ENST00000683760.1:c.1564_1568del	ENSP00000507765.1:p.Glu522ArgfsTer2
ENST00000321117.10:c.2233_2237del MANE Select	ENSP00000324375.5:p.Glu745ArgfsTer2
ENST00000264709.7:c.2233_2237del	ENSP00000264709.3:p.Glu745ArgfsTer2
ENST00000321117.9:c.2233_2237del	ENSP00000324375.5:p.Glu745ArgfsTer2
ENST00000380746.8:c.1666_1670del	ENSP00000370122.4:p.Glu556ArgfsTer2
ENST00000380756.7:c.2233_2237del	ENSP00000370132.3:p.Glu745ArgfsTer2
ENST00000402667.1:c.1564_1568del	ENSP00000384237.1:p.Glu522ArgfsTer2
ENST00000461228.1:n.452_456del
ENST00000466601.5:n.605_609del
ENST00000474887.5:n.552_556del
ENST00000482935.5:n.233_237del
ENST00000491288.5:n.310+249_310+253del
NM_022552.4:c.2233_2237del , LRG_459t1:c.2233_2237del	NP_072046.2:p.Glu745ArgfsTer2
NM_153759.3:c.1666_1670del , LRG_459t2:c.1666_1670del	NP_715640.2:p.Glu556ArgfsTer2
NM_175629.2:c.2233_2237del , LRG_459t4:c.2233_2237del	NP_783328.1:p.Glu745ArgfsTer2
XM_005264175.3:c.2233_2237del	XP_005264232.1:p.Glu745ArgfsTer2
XM_005264177.3:c.1564_1568del	XP_005264234.1:p.Glu522ArgfsTer2
XM_006711957.2:c.2233_2237del	XP_006712020.1:p.Glu745ArgfsTer2
XM_006711958.2:c.1789_1793del	XP_006712021.1:p.Glu597ArgfsTer2
XM_011532662.1:c.2086_2090del	XP_011530964.1:p.Glu696ArgfsTer2
XM_011532663.1:c.2068_2072del	XP_011530965.1:p.Glu690ArgfsTer2
XM_011532664.1:c.2233_2237del	XP_011530966.1:p.Glu745ArgfsTer2
XM_011532665.1:c.1777_1781del	XP_011530967.1:p.Glu593ArgfsTer2
XM_011532666.1:c.1705_1709del	XP_011530968.1:p.Glu569ArgfsTer2
XM_011532667.1:c.1564_1568del	XP_011530969.1:p.Glu522ArgfsTer2
XM_011532668.1:c.2233_2237del	XP_011530970.1:p.Glu745ArgfsTer2
NM_001320893.1:c.1777_1781del	NP_001307822.1:p.Glu593ArgfsTer2
NR_135490.1:n.2571_2575del
XM_005264175.5:c.2233_2237del	XP_005264232.1:p.Glu745ArgfsTer2
XM_005264177.4:c.1564_1568del	XP_005264234.1:p.Glu522ArgfsTer2
XM_011532662.2:c.2086_2090del	XP_011530964.1:p.Glu696ArgfsTer2
XM_011532663.2:c.2068_2072del	XP_011530965.1:p.Glu690ArgfsTer2
XM_011532664.2:c.2233_2237del	XP_011530966.1:p.Glu745ArgfsTer2
XM_011532666.2:c.1705_1709del	XP_011530968.1:p.Glu569ArgfsTer2
XM_011532667.3:c.1564_1568del	XP_011530969.1:p.Glu522ArgfsTer2
XM_017003526.1:c.2233_2237del	XP_016859015.1:p.Glu745ArgfsTer2
XM_017003527.1:c.1564_1568del	XP_016859016.1:p.Glu522ArgfsTer2
XR_001738657.1:n.2510_2514del
NM_001375819.1:c.1564_1568del	NP_001362748.1:p.Glu522ArgfsTer2
NR_135490.2:n.2464_2468del
NM_022552.5:c.2233_2237del MANE Select	NP_072046.2:p.Glu745ArgfsTer2