Canonical Allele Identifier: CA305172837

Gene: DNMT1

Linked Data

• dbSNP Id: rs566279258
• gnomAD v2: 19-10266893-AT-A
• gnomAD v3: 19-10156217-AT-A
• gnomAD v4: 19-10156217-AT-A
• COSMIC: COSN18741649 ; COSN18742011
• MyVariant Identifiers: chr19:g.10266894del (hg19) ; chr19:g.10156218del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10156226del , CM000681.2:g.10156226del	GRCh38
NC_000019.9:g.10266902del , CM000681.1:g.10266902del	GRCh37
NC_000019.8:g.10127902del	NCBI36
NG_028016.3:g.80069del , LRG_362:g.80069del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359526.9:c.1399+173del MANE Select	ENSP00000352516.3:n.1399+173del
ENST00000676604.1:n.1011+173del
ENST00000676610.1:c.1351+173del	ENSP00000504236.1:n.1351+173del
ENST00000676820.1:n.1407+173del
ENST00000676868.1:n.2035+173del
ENST00000677013.1:c.*1041+173del	ENSP00000503135.1:n.*1041+173del
ENST00000677250.1:c.*471+173del	ENSP00000502894.1:n.*471+173del
ENST00000677616.1:c.1042+173del	ENSP00000503055.1:n.1042+173del
ENST00000677634.1:c.1351+173del	ENSP00000504246.1:n.1351+173del
ENST00000677685.1:c.*576+173del	ENSP00000503407.1:n.*576+173del
ENST00000677783.1:n.1821+173del
ENST00000677946.1:c.1351+173del	ENSP00000504202.1:n.1351+173del
ENST00000678024.1:n.1494+173del
ENST00000678694.1:n.672+173del
ENST00000678804.1:c.1351+173del	ENSP00000503853.1:n.1351+173del
ENST00000679103.1:c.1351+173del	ENSP00000503151.1:n.1351+173del
ENST00000679313.1:c.1351+173del	ENSP00000504512.1:n.1351+173del
ENST00000340748.8:c.1351+173del	ENSP00000345739.3:n.1351+173del
ENST00000359526.8:c.1399+173del	ENSP00000352516.3:n.1399+173del
ENST00000540357.5:c.343+173del	ENSP00000440457.2:n.343+173del
ENST00000585843.1:n.556+173del
ENST00000592705.5:c.*1089+173del	ENSP00000466657.1:n.*1089+173del
NM_001130823.1:c.1399+173del , LRG_362t1:c.1399+173del	NP_001124295.1:n.1399+173del
NM_001379.2:c.1351+173del	NP_001370.1:n.1351+173del
XM_011527772.1:c.1399+173del	XP_011526074.1:n.1399+173del
XM_011527773.1:c.1351+173del	XP_011526075.1:n.1351+173del
XM_011527774.1:c.988+173del	XP_011526076.1:n.988+173del
NM_001130823.2:c.1399+173del	NP_001124295.1:n.1399+173del
NM_001318730.1:c.1351+173del	NP_001305659.1:n.1351+173del
NM_001318731.1:c.1036+173del	NP_001305660.1:n.1036+173del
NM_001379.3:c.1351+173del	NP_001370.1:n.1351+173del
NM_001130823.3:c.1399+173del MANE Select	NP_001124295.1:n.1399+173del
NM_001318730.2:c.1351+173del	NP_001305659.1:n.1351+173del
NM_001318731.2:c.1036+173del	NP_001305660.1:n.1036+173del
NM_001379.4:c.1351+173del	NP_001370.1:n.1351+173del