Canonical Allele Identifier: CA2739276435

Gene: DNMT1

Linked Data

• ClinVar Variation Id: 2812791
• ClinVar RCV Id: RCV003641472

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10154588_10154589del , CM000681.2:g.10154588_10154589del	GRCh38
NC_000019.9:g.10265264_10265265del , CM000681.1:g.10265264_10265265del	GRCh37
NC_000019.8:g.10126264_10126265del	NCBI36
NG_028016.3:g.81700_81701del , LRG_362:g.81700_81701del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359526.9:c.1831_1832del MANE Select	ENSP00000352516.3:p.Arg611AlafsTer?
ENST00000676604.1:n.1443_1444del
ENST00000676610.1:c.1783_1784del	ENSP00000504236.1:p.Arg595AlafsTer?
ENST00000676820.1:n.1839_1840del
ENST00000676868.1:n.2467_2468del
ENST00000677013.1:c.*1473_*1474del	ENSP00000503135.1:n.*1473_*1474del
ENST00000677250.1:c.*903_*904del	ENSP00000502894.1:n.*903_*904del
ENST00000677616.1:c.1474_1475del	ENSP00000503055.1:p.Arg492AlafsTer?
ENST00000677634.1:c.1783_1784del	ENSP00000504246.1:p.Arg595AlafsTer?
ENST00000677685.1:c.*1008_*1009del	ENSP00000503407.1:n.*1008_*1009del
ENST00000677783.1:n.2253_2254del
ENST00000677946.1:c.1783_1784del	ENSP00000504202.1:p.Arg595AlafsTer?
ENST00000678024.1:n.1926_1927del
ENST00000678694.1:n.1104_1105del
ENST00000678804.1:c.1783_1784del	ENSP00000503853.1:p.Arg595AlafsTer?
ENST00000679103.1:c.1783_1784del	ENSP00000503151.1:p.Arg595AlafsTer?
ENST00000679313.1:c.1783_1784del	ENSP00000504512.1:p.Arg595AlafsTer?
ENST00000340748.8:c.1783_1784del	ENSP00000345739.3:p.Arg595AlafsTer?
ENST00000359526.8:c.1831_1832del	ENSP00000352516.3:p.Arg611AlafsTer?
ENST00000540357.5:c.775_776del	ENSP00000440457.2:p.Arg259AlafsTer?
ENST00000586799.1:c.217_218del
ENST00000592705.5:c.*1521_*1522del	ENSP00000466657.1:n.*1521_*1522del
NM_001130823.1:c.1831_1832del , LRG_362t1:c.1831_1832del	NP_001124295.1:p.Arg611AlafsTer?
NM_001379.2:c.1783_1784del	NP_001370.1:p.Arg595AlafsTer?
XM_011527772.1:c.1831_1832del	XP_011526074.1:p.Arg611AlafsTer?
XM_011527773.1:c.1783_1784del	XP_011526075.1:p.Arg595AlafsTer?
XM_011527774.1:c.1420_1421del	XP_011526076.1:p.Arg474AlafsTer?
NM_001130823.2:c.1831_1832del	NP_001124295.1:p.Arg611AlafsTer?
NM_001318730.1:c.1783_1784del	NP_001305659.1:p.Arg595AlafsTer?
NM_001318731.1:c.1468_1469del	NP_001305660.1:p.Arg490AlafsTer?
NM_001379.3:c.1783_1784del	NP_001370.1:p.Arg595AlafsTer?
NM_001130823.3:c.1831_1832del MANE Select	NP_001124295.1:p.Arg611AlafsTer?
NM_001318730.2:c.1783_1784del	NP_001305659.1:p.Arg595AlafsTer?
NM_001318731.2:c.1468_1469del	NP_001305660.1:p.Arg490AlafsTer?
NM_001379.4:c.1783_1784del	NP_001370.1:p.Arg595AlafsTer?