Canonical Allele Identifier: CA16043133
Gene: DNMT3B HGNC NCBI

Linked Data

ClinVar Variation Id: 373054
ClinVar RCV Id: RCV000413388
dbSNP Id: rs1057518176

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32787359dup , CM000682.2:g.32787359dup GRCh38
NC_000020.10:g.31375165dup , CM000682.1:g.31375165dup GRCh37
NC_000020.9:g.30838826dup NCBI36
NG_007290.1:g.29975dup , LRG_56:g.29975dup

Transcript Alleles

HGVS Amino-acid change
ENST00000696231.1:c.562dup ENSP00000512497.1:p.Tyr188LeufsTer?
ENST00000696232.1:c.562dup ENSP00000512498.1:p.Tyr188LeufsTer?
ENST00000696233.1:c.562dup ENSP00000512499.1:p.Tyr188LeufsTer?
ENST00000696234.1:n.546dup
ENST00000696235.1:c.436dup ENSP00000512500.1:p.Tyr146LeufsTer?
ENST00000696236.1:c.436dup ENSP00000512501.1:p.Tyr146LeufsTer?
ENST00000696237.1:n.668dup
ENST00000696238.1:c.562dup ENSP00000512502.1:p.Tyr188LeufsTer?
ENST00000696239.1:c.562dup ENSP00000512503.1:p.Tyr188LeufsTer?
ENST00000201963.3:c.598dup ENSP00000201963.3:p.Tyr200LeufsTer?
ENST00000328111.6:c.562dup MANE Select ENSP00000328547.2:p.Tyr188LeufsTer?
ENST00000348286.6:c.562dup ENSP00000337764.2:p.Tyr188LeufsTer?
ENST00000353855.6:c.562dup ENSP00000313397.4:p.Tyr188LeufsTer?
ENST00000443239.7:c.436dup ENSP00000403169.2:p.Tyr146LeufsTer?
ENST00000456297.6:c.334dup ENSP00000412305.1:p.Tyr112LeufsTer?
NM_001207055.1:c.436dup NP_001193984.1:p.Tyr146LeufsTer?
NM_001207056.1:c.334dup NP_001193985.1:p.Tyr112LeufsTer?
NM_006892.3:c.562dup , LRG_56t1:c.562dup NP_008823.1:p.Tyr188LeufsTer?
NM_175848.1:c.562dup NP_787044.1:p.Tyr188LeufsTer?
NM_175849.1:c.562dup NP_787045.1:p.Tyr188LeufsTer?
NM_175850.2:c.598dup NP_787046.1:p.Tyr200LeufsTer?
XM_011528653.1:c.598dup XP_011526955.1:p.Tyr200LeufsTer?
XM_011528654.1:c.472dup XP_011526956.1:p.Tyr158LeufsTer?
XR_936510.1:n.734dup
XR_936511.1:n.734dup
XR_936512.1:n.609dup
XM_011528653.2:c.598dup XP_011526955.1:p.Tyr200LeufsTer?
XM_011528654.2:c.472dup XP_011526956.1:p.Tyr158LeufsTer?
XR_936510.2:n.745dup
XR_936511.2:n.745dup
XR_936512.2:n.621dup
NM_001207055.2:c.436dup NP_001193984.1:p.Tyr146LeufsTer?
NM_001207056.2:c.334dup NP_001193985.1:p.Tyr112LeufsTer?
NM_006892.4:c.562dup MANE Select NP_008823.1:p.Tyr188LeufsTer?
NM_175848.2:c.562dup NP_787044.1:p.Tyr188LeufsTer?
NM_175849.2:c.562dup NP_787045.1:p.Tyr188LeufsTer?
NM_175850.3:c.598dup NP_787046.1:p.Tyr200LeufsTer?