Canonical Allele Identifier: CA2652396379

Gene: DNMT3B

Linked Data

• gnomAD v4: 20-32787269-T-TGGCCGTCCCCTCCCAGCTCTTACCTTACCATCGACCTCACAGACG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32787270_32787314dup , CM000682.2:g.32787270_32787314dup	GRCh38
NC_000020.10:g.31375076_31375120dup , CM000682.1:g.31375076_31375120dup	GRCh37
NC_000020.9:g.30838737_30838781dup	NCBI36
NG_007290.1:g.29886_29930dup , LRG_56:g.29886_29930dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696231.1:c.473_517dup	ENSP00000512497.1:p.Asp172_Asp173insGlyProSerProProSerSerTyrL...
ENST00000696232.1:c.473_517dup	ENSP00000512498.1:p.Asp172_Asp173insGlyProSerProProSerSerTyrL...
ENST00000696233.1:c.473_517dup	ENSP00000512499.1:p.Asp172_Asp173insGlyProSerProProSerSerTyrL...
ENST00000696234.1:n.457_501dup
ENST00000696235.1:c.347_391dup	ENSP00000512500.1:p.Asp130_Asp131insGlyProSerProProSerSerTyrL...
ENST00000696236.1:c.347_391dup	ENSP00000512501.1:p.Asp130_Asp131insGlyProSerProProSerSerTyrL...
ENST00000696237.1:n.579_623dup
ENST00000696238.1:c.473_517dup	ENSP00000512502.1:p.Asp172_Asp173insGlyProSerProProSerSerTyrL...
ENST00000696239.1:c.473_517dup	ENSP00000512503.1:p.Asp172_Asp173insGlyProSerProProSerSerTyrL...
ENST00000201963.3:c.509_553dup	ENSP00000201963.3:p.Asp184_Asp185insGlyProSerProProSerSerTyrL...
ENST00000328111.6:c.473_517dup MANE Select	ENSP00000328547.2:p.Asp172_Asp173insGlyProSerProProSerSerTyrL...
ENST00000348286.6:c.473_517dup	ENSP00000337764.2:p.Asp172_Asp173insGlyProSerProProSerSerTyrL...
ENST00000353855.6:c.473_517dup	ENSP00000313397.4:p.Asp172_Asp173insGlyProSerProProSerSerTyrL...
ENST00000443239.7:c.347_391dup	ENSP00000403169.2:p.Asp130_Asp131insGlyProSerProProSerSerTyrL...
ENST00000456297.6:c.245_289dup	ENSP00000412305.1:p.Asp96_Asp97insGlyProSerProProSerSerTyrLeu...
NM_001207055.1:c.347_391dup	NP_001193984.1:p.Asp130_Asp131insGlyProSerProProSerSerTyrLeuT...
NM_001207056.1:c.245_289dup	NP_001193985.1:p.Asp96_Asp97insGlyProSerProProSerSerTyrLeuThr...
NM_006892.3:c.473_517dup , LRG_56t1:c.473_517dup	NP_008823.1:p.Asp172_Asp173insGlyProSerProProSerSerTyrLeuThrI...
NM_175848.1:c.473_517dup	NP_787044.1:p.Asp172_Asp173insGlyProSerProProSerSerTyrLeuThrI...
NM_175849.1:c.473_517dup	NP_787045.1:p.Asp172_Asp173insGlyProSerProProSerSerTyrLeuThrI...
NM_175850.2:c.509_553dup	NP_787046.1:p.Asp184_Asp185insGlyProSerProProSerSerTyrLeuThrI...
XM_011528653.1:c.509_553dup	XP_011526955.1:p.Asp184_Asp185insGlyProSerProProSerSerTyrLeuT...
XM_011528654.1:c.383_427dup	XP_011526956.1:p.Asp142_Asp143insGlyProSerProProSerSerTyrLeuT...
XR_936510.1:n.645_689dup
XR_936511.1:n.645_689dup
XR_936512.1:n.520_564dup
XM_011528653.2:c.509_553dup	XP_011526955.1:p.Asp184_Asp185insGlyProSerProProSerSerTyrLeuT...
XM_011528654.2:c.383_427dup	XP_011526956.1:p.Asp142_Asp143insGlyProSerProProSerSerTyrLeuT...
XR_936510.2:n.656_700dup
XR_936511.2:n.656_700dup
XR_936512.2:n.532_576dup
NM_001207055.2:c.347_391dup	NP_001193984.1:p.Asp130_Asp131insGlyProSerProProSerSerTyrLeuT...
NM_001207056.2:c.245_289dup	NP_001193985.1:p.Asp96_Asp97insGlyProSerProProSerSerTyrLeuThr...
NM_006892.4:c.473_517dup MANE Select	NP_008823.1:p.Asp172_Asp173insGlyProSerProProSerSerTyrLeuThrI...
NM_175848.2:c.473_517dup	NP_787044.1:p.Asp172_Asp173insGlyProSerProProSerSerTyrLeuThrI...
NM_175849.2:c.473_517dup	NP_787045.1:p.Asp172_Asp173insGlyProSerProProSerSerTyrLeuThrI...
NM_175850.3:c.509_553dup	NP_787046.1:p.Asp184_Asp185insGlyProSerProProSerSerTyrLeuThrI...