Canonical Allele Identifier: CA2556601976
Gene: DNMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2181217
ClinVar RCV Id: RCV002603210

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10146481_10146483del , CM000681.2:g.10146481_10146483del GRCh38
NC_000019.9:g.10257157_10257159del , CM000681.1:g.10257157_10257159del GRCh37
NC_000019.8:g.10118157_10118159del NCBI36
NG_028016.3:g.89806_89808del , LRG_362:g.89806_89808del

Transcript Alleles

HGVS Amino-acid change
ENST00000359526.9:c.2764_2766del MANE Select ENSP00000352516.3:p.Glu922del
ENST00000586667.2:n.799_801del
ENST00000676604.1:n.2376_2378del
ENST00000676610.1:c.2716_2718del ENSP00000504236.1:p.Glu906del
ENST00000676820.1:n.2772_2774del
ENST00000676868.1:n.3400_3402del
ENST00000677013.1:c.*2406_*2408del ENSP00000503135.1:n.*2406_*2408del
ENST00000677250.1:c.*1836_*1838del ENSP00000502894.1:n.*1836_*1838del
ENST00000677616.1:c.2407_2409del ENSP00000503055.1:p.Glu803del
ENST00000677634.1:c.2716_2718del ENSP00000504246.1:p.Glu906del
ENST00000677685.1:c.*1941_*1943del ENSP00000503407.1:n.*1941_*1943del
ENST00000677783.1:n.3186_3188del
ENST00000677946.1:c.2716_2718del ENSP00000504202.1:p.Glu906del
ENST00000678024.1:n.2859_2861del
ENST00000678647.1:n.849_851del
ENST00000678694.1:n.2037_2039del
ENST00000678804.1:c.2716_2718del ENSP00000503853.1:p.Glu906del
ENST00000679100.1:n.903_905del
ENST00000679103.1:c.2716_2718del ENSP00000503151.1:p.Glu906del
ENST00000679313.1:c.2716_2718del ENSP00000504512.1:p.Glu906del
ENST00000340748.8:c.2716_2718del ENSP00000345739.3:p.Glu906del
ENST00000359526.8:c.2764_2766del ENSP00000352516.3:p.Glu922del
ENST00000540357.5:c.1708_1710del ENSP00000440457.2:p.Glu570del
ENST00000592705.5:c.*2454_*2456del ENSP00000466657.1:n.*2454_*2456del
NM_001130823.1:c.2764_2766del , LRG_362t1:c.2764_2766del NP_001124295.1:p.Glu922del
NM_001379.2:c.2716_2718del NP_001370.1:p.Glu906del
XM_011527772.1:c.2764_2766del XP_011526074.1:p.Glu922del
XM_011527773.1:c.2716_2718del XP_011526075.1:p.Glu906del
XM_011527774.1:c.2353_2355del XP_011526076.1:p.Glu785del
NM_001130823.2:c.2764_2766del NP_001124295.1:p.Glu922del
NM_001318730.1:c.2716_2718del NP_001305659.1:p.Glu906del
NM_001318731.1:c.2401_2403del NP_001305660.1:p.Glu801del
NM_001379.3:c.2716_2718del NP_001370.1:p.Glu906del
NM_001130823.3:c.2764_2766del MANE Select NP_001124295.1:p.Glu922del
NM_001318730.2:c.2716_2718del NP_001305659.1:p.Glu906del
NM_001318731.2:c.2401_2403del NP_001305660.1:p.Glu801del
NM_001379.4:c.2716_2718del NP_001370.1:p.Glu906del