Canonical Allele Identifier: CA259621
Gene: DNMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 29683
ClinVar RCV Id: RCV000022530
dbSNP Id: rs199473691

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10155029_10155031delinsTAT , CM000681.2:g.10155029_10155031delinsTAT GRCh38
NC_000019.9:g.10265705_10265707delinsTAT , CM000681.1:g.10265705_10265707delinsTAT GRCh37
NC_000019.8:g.10126705_10126707delinsTAT NCBI36
NG_028016.3:g.81256_81258delinsATA , LRG_362:g.81256_81258delinsATA

Transcript Alleles

HGVS Amino-acid change
ENST00000359526.9:c.1518_1520delinsATA MANE Select ENSP00000352516.3:p.Asp506_Pro507delinsGl...
ENST00000676604.1:n.1130_1132delinsATA
ENST00000676610.1:c.1470_1472delinsATA ENSP00000504236.1:p.Asp490_Pro491delinsGl...
ENST00000676820.1:n.1526_1528delinsATA
ENST00000676868.1:n.2154_2156delinsATA
ENST00000677013.1:c.*1160_*1162delinsATA ENSP00000503135.1:n.*1160_*1162delinsATA
ENST00000677250.1:c.*590_*592delinsATA ENSP00000502894.1:n.*590_*592delinsATA
ENST00000677616.1:c.1161_1163delinsATA ENSP00000503055.1:p.Asp387_Pro388delinsGl...
ENST00000677634.1:c.1470_1472delinsATA ENSP00000504246.1:p.Asp490_Pro491delinsGl...
ENST00000677685.1:c.*695_*697delinsATA ENSP00000503407.1:n.*695_*697delinsATA
ENST00000677783.1:n.1940_1942delinsATA
ENST00000677946.1:c.1470_1472delinsATA ENSP00000504202.1:p.Asp490_Pro491delinsGl...
ENST00000678024.1:n.1613_1615delinsATA
ENST00000678694.1:n.791_793delinsATA
ENST00000678804.1:c.1470_1472delinsATA ENSP00000503853.1:p.Asp490_Pro491delinsGl...
ENST00000679103.1:c.1470_1472delinsATA ENSP00000503151.1:p.Asp490_Pro491delinsGl...
ENST00000679313.1:c.1470_1472delinsATA ENSP00000504512.1:p.Asp490_Pro491delinsGl...
ENST00000340748.8:c.1470_1472delinsATA ENSP00000345739.3:p.Asp490_Pro491delinsGl...
ENST00000359526.8:c.1518_1520delinsATA ENSP00000352516.3:p.Asp506_Pro507delinsGl...
ENST00000540357.5:c.462_464delinsATA ENSP00000440457.2:p.Asp154_Pro155delinsGl...
ENST00000585843.1:n.675_677delinsATA
ENST00000592705.5:c.*1208_*1210delinsATA ENSP00000466657.1:n.*1208_*1210delinsATA
NM_001130823.1:c.1518_1520delinsATA , LRG_362t1:c.1518_1520delinsATA NP_001124295.1:p.Asp506_Pro507delinsGluTy...
NM_001379.2:c.1470_1472delinsATA NP_001370.1:p.Asp490_Pro491delinsGluTyr
XM_011527772.1:c.1518_1520delinsATA XP_011526074.1:p.Asp506_Pro507delinsGluTy...
XM_011527773.1:c.1470_1472delinsATA XP_011526075.1:p.Asp490_Pro491delinsGluTy...
XM_011527774.1:c.1107_1109delinsATA XP_011526076.1:p.Asp369_Pro370delinsGluTy...
NM_001130823.2:c.1518_1520delinsATA NP_001124295.1:p.Asp506_Pro507delinsGluTy...
NM_001318730.1:c.1470_1472delinsATA NP_001305659.1:p.Asp490_Pro491delinsGluTy...
NM_001318731.1:c.1155_1157delinsATA NP_001305660.1:p.Asp385_Pro386delinsGluTy...
NM_001379.3:c.1470_1472delinsATA NP_001370.1:p.Asp490_Pro491delinsGluTyr
NM_001130823.3:c.1518_1520delinsATA MANE Select NP_001124295.1:p.Asp506_Pro507delinsGluTy...
NM_001318730.2:c.1470_1472delinsATA NP_001305659.1:p.Asp490_Pro491delinsGluTy...
NM_001318731.2:c.1155_1157delinsATA NP_001305660.1:p.Asp385_Pro386delinsGluTy...
NM_001379.4:c.1470_1472delinsATA NP_001370.1:p.Asp490_Pro491delinsGluTyr