Canonical Allele Identifier: CA2658168422

Gene: DNMT3A

Linked Data

• gnomAD v4: 2-25244179-GAAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25244181_25244184del , CM000664.2:g.25244181_25244184del	GRCh38
NC_000002.11:g.25467050_25467053del , CM000664.1:g.25467050_25467053del	GRCh37
NC_000002.10:g.25320554_25320557del	NCBI36
NG_029465.2:g.103408_103411del , LRG_459:g.103408_103411del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474887.6:c.142_145del
ENST00000683393.1:c.969_972del	ENSP00000508654.1:n.969_972del
ENST00000683760.1:c.1154_1157del	ENSP00000507765.1:p.Phe385SerfsTer?
ENST00000321117.10:c.1823_1826del MANE Select	ENSP00000324375.5:p.Phe608SerfsTer?
ENST00000264709.7:c.1823_1826del	ENSP00000264709.3:p.Phe608SerfsTer?
ENST00000321117.9:c.1823_1826del	ENSP00000324375.5:p.Phe608SerfsTer?
ENST00000380746.8:c.1256_1259del	ENSP00000370122.4:p.Phe419SerfsTer?
ENST00000380756.7:c.1823_1826del	ENSP00000370132.3:p.Phe608SerfsTer?
ENST00000402667.1:c.1154_1157del	ENSP00000384237.1:p.Phe385SerfsTer?
ENST00000474887.5:n.142_145del
NM_022552.4:c.1823_1826del , LRG_459t1:c.1823_1826del	NP_072046.2:p.Phe608SerfsTer?
NM_153759.3:c.1256_1259del , LRG_459t2:c.1256_1259del	NP_715640.2:p.Phe419SerfsTer?
NM_175629.2:c.1823_1826del , LRG_459t4:c.1823_1826del	NP_783328.1:p.Phe608SerfsTer?
XM_005264175.3:c.1823_1826del	XP_005264232.1:p.Phe608SerfsTer?
XM_005264177.3:c.1154_1157del	XP_005264234.1:p.Phe385SerfsTer?
XM_006711957.2:c.1823_1826del	XP_006712020.1:p.Phe608SerfsTer?
XM_006711958.2:c.1379_1382del	XP_006712021.1:p.Phe460SerfsTer?
XM_011532662.1:c.1676_1679del	XP_011530964.1:p.Phe559SerfsTer?
XM_011532663.1:c.1658_1661del	XP_011530965.1:p.Phe553SerfsTer?
XM_011532664.1:c.1823_1826del	XP_011530966.1:p.Phe608SerfsTer?
XM_011532665.1:c.1367_1370del	XP_011530967.1:p.Phe456SerfsTer?
XM_011532666.1:c.1295_1298del	XP_011530968.1:p.Phe432SerfsTer?
XM_011532667.1:c.1154_1157del	XP_011530969.1:p.Phe385SerfsTer?
XM_011532668.1:c.1823_1826del	XP_011530970.1:p.Phe608SerfsTer?
NM_001320893.1:c.1367_1370del	NP_001307822.1:p.Phe456SerfsTer?
NR_135490.1:n.2161_2164del
XM_005264175.5:c.1823_1826del	XP_005264232.1:p.Phe608SerfsTer?
XM_005264177.4:c.1154_1157del	XP_005264234.1:p.Phe385SerfsTer?
XM_011532662.2:c.1676_1679del	XP_011530964.1:p.Phe559SerfsTer?
XM_011532663.2:c.1658_1661del	XP_011530965.1:p.Phe553SerfsTer?
XM_011532664.2:c.1823_1826del	XP_011530966.1:p.Phe608SerfsTer?
XM_011532666.2:c.1295_1298del	XP_011530968.1:p.Phe432SerfsTer?
XM_011532667.3:c.1154_1157del	XP_011530969.1:p.Phe385SerfsTer?
XM_017003526.1:c.1823_1826del	XP_016859015.1:p.Phe608SerfsTer?
XM_017003527.1:c.1154_1157del	XP_016859016.1:p.Phe385SerfsTer?
XR_001738657.1:n.2100_2103del
NM_001375819.1:c.1154_1157del	NP_001362748.1:p.Phe385SerfsTer?
NR_135490.2:n.2054_2057del
NM_022552.5:c.1823_1826del MANE Select	NP_072046.2:p.Phe608SerfsTer?