Canonical Allele Identifier: CA2588330494
Gene: DNMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10156425del , CM000681.2:g.10156425del GRCh38
NC_000019.9:g.10267101del , CM000681.1:g.10267101del GRCh37
NC_000019.8:g.10128101del NCBI36
NG_028016.3:g.79865del , LRG_362:g.79865del

Transcript Alleles

HGVS Amino-acid Change
ENST00000359526.9:c.1368del MANE Select ENSP00000352516.3:p.Lys456AsnfsTer22
ENST00000676604.1:n.980del
ENST00000676610.1:c.1320del ENSP00000504236.1:p.Lys440AsnfsTer22
ENST00000676820.1:n.1376del
ENST00000676868.1:n.2004del
ENST00000677013.1:c.*1010del ENSP00000503135.1:n.*1010del
ENST00000677250.1:c.*440del ENSP00000502894.1:n.*440del
ENST00000677616.1:c.1011del ENSP00000503055.1:p.Lys337AsnfsTer22
ENST00000677634.1:c.1320del ENSP00000504246.1:p.Lys440AsnfsTer22
ENST00000677685.1:c.*545del ENSP00000503407.1:n.*545del
ENST00000677783.1:n.1790del
ENST00000677946.1:c.1320del ENSP00000504202.1:p.Lys440AsnfsTer22
ENST00000678024.1:n.1463del
ENST00000678694.1:n.641del
ENST00000678804.1:c.1320del ENSP00000503853.1:p.Lys440AsnfsTer22
ENST00000679103.1:c.1320del ENSP00000503151.1:p.Lys440AsnfsTer22
ENST00000679313.1:c.1320del ENSP00000504512.1:p.Lys440AsnfsTer22
ENST00000340748.8:c.1320del ENSP00000345739.3:p.Lys440AsnfsTer22
ENST00000359526.8:c.1368del ENSP00000352516.3:p.Lys456AsnfsTer22
ENST00000540357.5:c.312del ENSP00000440457.2:p.Lys104AsnfsTer22
ENST00000585843.1:n.525del
ENST00000592705.5:c.*1058del ENSP00000466657.1:n.*1058del
NM_001130823.1:c.1368del , LRG_362t1:c.1368del NP_001124295.1:p.Lys456AsnfsTer22
NM_001379.2:c.1320del NP_001370.1:p.Lys440AsnfsTer22
XM_011527772.1:c.1368del XP_011526074.1:p.Lys456AsnfsTer22
XM_011527773.1:c.1320del XP_011526075.1:p.Lys440AsnfsTer22
XM_011527774.1:c.957del XP_011526076.1:p.Lys319AsnfsTer22
NM_001130823.2:c.1368del NP_001124295.1:p.Lys456AsnfsTer22
NM_001318730.1:c.1320del NP_001305659.1:p.Lys440AsnfsTer22
NM_001318731.1:c.1005del NP_001305660.1:p.Lys335AsnfsTer22
NM_001379.3:c.1320del NP_001370.1:p.Lys440AsnfsTer22
NM_001130823.3:c.1368del MANE Select NP_001124295.1:p.Lys456AsnfsTer22
NM_001318730.2:c.1320del NP_001305659.1:p.Lys440AsnfsTer22
NM_001318731.2:c.1005del NP_001305660.1:p.Lys335AsnfsTer22
NM_001379.4:c.1320del NP_001370.1:p.Lys440AsnfsTer22