Canonical Allele Identifier: CA2322309163

Gene: DNMT1

Linked Data

• dbSNP Id: rs2039371156
• gnomAD v4: 19-10194733-G-GGCCACCGGCCACCCCGAGGGGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10194736_10194758dup , CM000681.2:g.10194736_10194758dup	GRCh38
NC_000019.9:g.10305412_10305434dup , CM000681.1:g.10305412_10305434dup	GRCh37
NC_000019.8:g.10166412_10166434dup	NCBI36
NG_028016.3:g.41531_41553dup , LRG_362:g.41531_41553dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359526.9:c.80+64_80+86dup MANE Select	ENSP00000352516.3:n.80+64_80+86dup
ENST00000676610.1:c.80+64_80+86dup	ENSP00000504236.1:n.80+64_80+86dup
ENST00000676820.1:n.136+64_136+86dup
ENST00000677013.1:c.80+64_80+86dup	ENSP00000503135.1:n.80+64_80+86dup
ENST00000677250.1:c.80+64_80+86dup	ENSP00000502894.1:n.80+64_80+86dup
ENST00000677634.1:c.80+64_80+86dup	ENSP00000504246.1:n.80+64_80+86dup
ENST00000677685.1:c.80+64_80+86dup	ENSP00000503407.1:n.80+64_80+86dup
ENST00000677946.1:c.80+64_80+86dup	ENSP00000504202.1:n.80+64_80+86dup
ENST00000678804.1:c.80+64_80+86dup	ENSP00000503853.1:n.80+64_80+86dup
ENST00000679103.1:c.80+64_80+86dup	ENSP00000503151.1:n.80+64_80+86dup
ENST00000679313.1:c.80+64_80+86dup	ENSP00000504512.1:n.80+64_80+86dup
ENST00000340748.8:c.80+64_80+86dup	ENSP00000345739.3:n.80+64_80+86dup
ENST00000359526.8:c.80+64_80+86dup	ENSP00000352516.3:n.80+64_80+86dup
ENST00000540357.5:c.-561+187_-561+209dup	ENSP00000440457.2:n.-561+187_-561+209dup
ENST00000586800.5:c.-284+6118_-284+6140dup	ENSP00000465555.1:n.-284+6118_-284+6140dup
ENST00000586988.5:c.80+64_80+86dup	ENSP00000464958.1:n.80+64_80+86dup
ENST00000588118.5:c.245+64_245+86dup	ENSP00000465223.1:n.245+64_245+86dup
ENST00000588952.5:c.-283-12679_-283-12657dup	ENSP00000467050.1:n.-283-12679_-283-12657dup
ENST00000592342.5:c.-283-12679_-283-12657dup	ENSP00000465993.1:n.-283-12679_-283-12657dup
ENST00000592705.5:c.80+64_80+86dup	ENSP00000466657.1:n.80+64_80+86dup
NM_001130823.1:c.80+64_80+86dup , LRG_362t1:c.80+64_80+86dup	NP_001124295.1:n.80+64_80+86dup
NM_001379.2:c.80+64_80+86dup	NP_001370.1:n.80+64_80+86dup
XM_011527772.1:c.80+64_80+86dup	XP_011526074.1:n.80+64_80+86dup
XM_011527773.1:c.80+64_80+86dup	XP_011526075.1:n.80+64_80+86dup
NM_001130823.2:c.80+64_80+86dup	NP_001124295.1:n.80+64_80+86dup
NM_001318730.1:c.80+64_80+86dup	NP_001305659.1:n.80+64_80+86dup
NM_001318731.1:c.-244+64_-244+86dup	NP_001305660.1:n.-244+64_-244+86dup
NM_001379.3:c.80+64_80+86dup	NP_001370.1:n.80+64_80+86dup
NM_001130823.3:c.80+64_80+86dup MANE Select	NP_001124295.1:n.80+64_80+86dup
NM_001318730.2:c.80+64_80+86dup	NP_001305659.1:n.80+64_80+86dup
NM_001318731.2:c.-244+64_-244+86dup	NP_001305660.1:n.-244+64_-244+86dup
NM_001379.4:c.80+64_80+86dup	NP_001370.1:n.80+64_80+86dup