Canonical Allele Identifier: CA2322301814
Gene: DNMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10180404_10180405delinsGT , CM000681.2:g.10180404_10180405delinsGT GRCh38
NC_000019.9:g.10291080_10291081delinsGT , CM000681.1:g.10291080_10291081delinsGT GRCh37
NC_000019.8:g.10152080_10152081delinsGT NCBI36
NG_028016.3:g.55882_55883delinsAC , LRG_362:g.55882_55883delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000359526.9:c.390_391delinsAC MANE Select ENSP00000352516.3:p.Lys130=
ENST00000676610.1:c.390_391delinsAC ENSP00000504236.1:p.Lys130=
ENST00000676820.1:n.446_447delinsAC
ENST00000677013.1:c.*80_*81delinsAC ENSP00000503135.1:n.*80_*81delinsAC
ENST00000677250.1:c.390_391delinsAC ENSP00000502894.1:p.Lys130=
ENST00000677616.1:c.27_28delinsAC ENSP00000503055.1:p.Lys9=
ENST00000677634.1:c.390_391delinsAC ENSP00000504246.1:p.Lys130=
ENST00000677685.1:c.225+373_225+374delinsAC ENSP00000503407.1:n.225+373_225+374delinsAC
ENST00000677946.1:c.390_391delinsAC ENSP00000504202.1:p.Lys130=
ENST00000678804.1:c.390_391delinsAC ENSP00000503853.1:p.Lys130=
ENST00000679103.1:c.390_391delinsAC ENSP00000503151.1:p.Lys130=
ENST00000679313.1:c.390_391delinsAC ENSP00000504512.1:p.Lys130=
ENST00000340748.8:c.390_391delinsAC ENSP00000345739.3:p.Lys130=
ENST00000359526.8:c.390_391delinsAC ENSP00000352516.3:p.Lys130=
ENST00000540357.5:c.-560-3041_-560-3040delinsAC ENSP00000440457.2:n.-560-3041_-560-3040delinsAC
ENST00000586800.5:c.27_28delinsAC ENSP00000465555.1:p.Lys9=
ENST00000586988.5:c.*218_*219delinsAC ENSP00000464958.1:n.*218_*219delinsAC
ENST00000588118.5:c.555_556delinsAC ENSP00000465223.1:p.Lys185=
ENST00000588952.5:c.27_28delinsAC ENSP00000467050.1:p.Lys9=
ENST00000592054.5:c.27_28delinsAC ENSP00000468359.1:p.Lys9=
ENST00000592342.5:c.27_28delinsAC ENSP00000465993.1:p.Lys9=
ENST00000592705.5:c.*80_*81delinsAC ENSP00000466657.1:n.*80_*81delinsAC
NM_001130823.1:c.390_391delinsAC , LRG_362t1:c.390_391delinsAC NP_001124295.1:p.Lys130=
NM_001379.2:c.390_391delinsAC NP_001370.1:p.Lys130=
XM_011527772.1:c.390_391delinsAC XP_011526074.1:p.Lys130=
XM_011527773.1:c.390_391delinsAC XP_011526075.1:p.Lys130=
XM_011527774.1:c.27_28delinsAC XP_011526076.1:p.Lys9=
NM_001130823.2:c.390_391delinsAC NP_001124295.1:p.Lys130=
NM_001318730.1:c.390_391delinsAC NP_001305659.1:p.Lys130=
NM_001318731.1:c.27_28delinsAC NP_001305660.1:p.Lys9=
NM_001379.3:c.390_391delinsAC NP_001370.1:p.Lys130=
NM_001130823.3:c.390_391delinsAC MANE Select NP_001124295.1:p.Lys130=
NM_001318730.2:c.390_391delinsAC NP_001305659.1:p.Lys130=
NM_001318731.2:c.27_28delinsAC NP_001305660.1:p.Lys9=
NM_001379.4:c.390_391delinsAC NP_001370.1:p.Lys130=