Canonical Allele Identifier: CA10584601
Gene: DNMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 245803
ClinVar RCV Id: RCV000235546
dbSNP Id: rs879253953
MyVariant Identifiers: chr19:g.10265348_10265351del (hg19) chr19:g.10154672_10154675del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10154672_10154675del , CM000681.2:g.10154672_10154675del GRCh38
NC_000019.9:g.10265348_10265351del , CM000681.1:g.10265348_10265351del GRCh37
NC_000019.8:g.10126348_10126351del NCBI36
NG_028016.3:g.81612_81615del , LRG_362:g.81612_81615del

Transcript Alleles

HGVS Amino-acid change
ENST00000359526.9:c.1743_1746del MANE Select ENSP00000352516.3:p.Asp581GlufsTer12
ENST00000676604.1:n.1355_1358del
ENST00000676610.1:c.1695_1698del ENSP00000504236.1:p.Asp565GlufsTer12
ENST00000676820.1:n.1751_1754del
ENST00000676868.1:n.2379_2382del
ENST00000677013.1:c.*1385_*1388del ENSP00000503135.1:n.*1385_*1388del
ENST00000677250.1:c.*815_*818del ENSP00000502894.1:n.*815_*818del
ENST00000677616.1:c.1386_1389del ENSP00000503055.1:p.Asp462GlufsTer12
ENST00000677634.1:c.1695_1698del ENSP00000504246.1:p.Asp565GlufsTer12
ENST00000677685.1:c.*920_*923del ENSP00000503407.1:n.*920_*923del
ENST00000677783.1:n.2165_2168del
ENST00000677946.1:c.1695_1698del ENSP00000504202.1:p.Asp565GlufsTer12
ENST00000678024.1:n.1838_1841del
ENST00000678694.1:n.1016_1019del
ENST00000678804.1:c.1695_1698del ENSP00000503853.1:p.Asp565GlufsTer12
ENST00000679103.1:c.1695_1698del ENSP00000503151.1:p.Asp565GlufsTer12
ENST00000679313.1:c.1695_1698del ENSP00000504512.1:p.Asp565GlufsTer12
ENST00000340748.8:c.1695_1698del ENSP00000345739.3:p.Asp565GlufsTer12
ENST00000359526.8:c.1743_1746del ENSP00000352516.3:p.Asp581GlufsTer12
ENST00000540357.5:c.687_690del ENSP00000440457.2:p.Asp229GlufsTer12
ENST00000585843.1:n.900_903del
ENST00000586799.1:c.129_132del
ENST00000592705.5:c.*1433_*1436del ENSP00000466657.1:n.*1433_*1436del
NM_001130823.1:c.1743_1746del , LRG_362t1:c.1743_1746del NP_001124295.1:p.Asp581GlufsTer12
NM_001379.2:c.1695_1698del NP_001370.1:p.Asp565GlufsTer12
XM_011527772.1:c.1743_1746del XP_011526074.1:p.Asp581GlufsTer12
XM_011527773.1:c.1695_1698del XP_011526075.1:p.Asp565GlufsTer12
XM_011527774.1:c.1332_1335del XP_011526076.1:p.Asp444GlufsTer12
NM_001130823.2:c.1743_1746del NP_001124295.1:p.Asp581GlufsTer12
NM_001318730.1:c.1695_1698del NP_001305659.1:p.Asp565GlufsTer12
NM_001318731.1:c.1380_1383del NP_001305660.1:p.Asp460GlufsTer12
NM_001379.3:c.1695_1698del NP_001370.1:p.Asp565GlufsTer12
NM_001130823.3:c.1743_1746del MANE Select NP_001124295.1:p.Asp581GlufsTer12
NM_001318730.2:c.1695_1698del NP_001305659.1:p.Asp565GlufsTer12
NM_001318731.2:c.1380_1383del NP_001305660.1:p.Asp460GlufsTer12
NM_001379.4:c.1695_1698del NP_001370.1:p.Asp565GlufsTer12
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