Canonical Allele Identifier: CA2588330492
Gene: DNMT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10156402_10156404del , CM000681.2:g.10156402_10156404del GRCh38
NC_000019.9:g.10267078_10267080del , CM000681.1:g.10267078_10267080del GRCh37
NC_000019.8:g.10128078_10128080del NCBI36
NG_028016.3:g.79883_79885del , LRG_362:g.79883_79885del

Transcript Alleles

HGVS Amino-acid change
ENST00000359526.9:c.1386_1388del MANE Select ENSP00000352516.3:p.Asp462_Pro463delinsGlu
ENST00000676604.1:n.998_1000del
ENST00000676610.1:c.1338_1340del ENSP00000504236.1:p.Asp446_Pro447delinsGlu
ENST00000676820.1:n.1394_1396del
ENST00000676868.1:n.2022_2024del
ENST00000677013.1:c.*1028_*1030del ENSP00000503135.1:n.*1028_*1030del
ENST00000677250.1:c.*458_*460del ENSP00000502894.1:n.*458_*460del
ENST00000677616.1:c.1029_1031del ENSP00000503055.1:p.Asp343_Pro344delinsGlu
ENST00000677634.1:c.1338_1340del ENSP00000504246.1:p.Asp446_Pro447delinsGlu
ENST00000677685.1:c.*563_*565del ENSP00000503407.1:n.*563_*565del
ENST00000677783.1:n.1808_1810del
ENST00000677946.1:c.1338_1340del ENSP00000504202.1:p.Asp446_Pro447delinsGlu
ENST00000678024.1:n.1481_1483del
ENST00000678694.1:n.659_661del
ENST00000678804.1:c.1338_1340del ENSP00000503853.1:p.Asp446_Pro447delinsGlu
ENST00000679103.1:c.1338_1340del ENSP00000503151.1:p.Asp446_Pro447delinsGlu
ENST00000679313.1:c.1338_1340del ENSP00000504512.1:p.Asp446_Pro447delinsGlu
ENST00000340748.8:c.1338_1340del ENSP00000345739.3:p.Asp446_Pro447delinsGlu
ENST00000359526.8:c.1386_1388del ENSP00000352516.3:p.Asp462_Pro463delinsGlu
ENST00000540357.5:c.330_332del ENSP00000440457.2:p.Asp110_Pro111delinsGlu
ENST00000585843.1:n.543_545del
ENST00000592705.5:c.*1076_*1078del ENSP00000466657.1:n.*1076_*1078del
NM_001130823.1:c.1386_1388del , LRG_362t1:c.1386_1388del NP_001124295.1:p.Asp462_Pro463delinsGlu
NM_001379.2:c.1338_1340del NP_001370.1:p.Asp446_Pro447delinsGlu
XM_011527772.1:c.1386_1388del XP_011526074.1:p.Asp462_Pro463delinsGlu
XM_011527773.1:c.1338_1340del XP_011526075.1:p.Asp446_Pro447delinsGlu
XM_011527774.1:c.975_977del XP_011526076.1:p.Asp325_Pro326delinsGlu
NM_001130823.2:c.1386_1388del NP_001124295.1:p.Asp462_Pro463delinsGlu
NM_001318730.1:c.1338_1340del NP_001305659.1:p.Asp446_Pro447delinsGlu
NM_001318731.1:c.1023_1025del NP_001305660.1:p.Asp341_Pro342delinsGlu
NM_001379.3:c.1338_1340del NP_001370.1:p.Asp446_Pro447delinsGlu
NM_001130823.3:c.1386_1388del MANE Select NP_001124295.1:p.Asp462_Pro463delinsGlu
NM_001318730.2:c.1338_1340del NP_001305659.1:p.Asp446_Pro447delinsGlu
NM_001318731.2:c.1023_1025del NP_001305660.1:p.Asp341_Pro342delinsGlu
NM_001379.4:c.1338_1340del NP_001370.1:p.Asp446_Pro447delinsGlu