Canonical Allele Identifier: CA2739277117
Gene: DNMT3B HGNC NCBI

Linked Data

ClinVar Variation Id: 2817109
ClinVar RCV Id: RCV003760926

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32805420del , CM000682.2:g.32805420del GRCh38
NC_000020.10:g.31393226del , CM000682.1:g.31393226del GRCh37
NC_000020.9:g.30856887del NCBI36
NG_007290.1:g.48036del , LRG_56:g.48036del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696231.1:c.*1252+13del ENSP00000512497.1:n.*1252+13del
ENST00000696232.1:c.2232-2342del ENSP00000512498.1:n.2232-2342del
ENST00000696233.1:c.*975-2342del ENSP00000512499.1:n.*975-2342del
ENST00000696238.1:c.*1044+13del ENSP00000512502.1:n.*1044+13del
ENST00000696239.1:c.2082+13del ENSP00000512503.1:n.2082+13del
ENST00000696245.1:n.327-789del
ENST00000201963.3:c.2277+13del ENSP00000201963.3:n.2277+13del
ENST00000328111.6:c.2301+13del MANE Select ENSP00000328547.2:n.2301+13del
ENST00000348286.6:c.2172-2342del ENSP00000337764.2:n.2172-2342del
ENST00000353855.6:c.2241+13del ENSP00000313397.4:n.2241+13del
ENST00000443239.7:c.2046-2342del ENSP00000403169.2:n.2046-2342del
ENST00000456297.6:c.1944-2342del ENSP00000412305.1:n.1944-2342del
NM_001207055.1:c.2046-2342del NP_001193984.1:n.2046-2342del
NM_001207056.1:c.1944-2342del NP_001193985.1:n.1944-2342del
NM_006892.3:c.2301+13del , LRG_56t1:c.2301+13del NP_008823.1:n.2301+13del
NM_175848.1:c.2241+13del NP_787044.1:n.2241+13del
NM_175849.1:c.2172-2342del NP_787045.1:n.2172-2342del
NM_175850.2:c.2277+13del NP_787046.1:n.2277+13del
XM_011528653.1:c.2208-2342del XP_011526955.1:n.2208-2342del
XM_011528654.1:c.2082-2342del XP_011526956.1:n.2082-2342del
XR_936510.1:n.2268+13del
XR_936511.1:n.2199-2342del
XR_936512.1:n.2143+13del
XM_011528653.2:c.2208-2342del XP_011526955.1:n.2208-2342del
XM_011528654.2:c.2082-2342del XP_011526956.1:n.2082-2342del
XR_936510.2:n.2279+13del
XR_936511.2:n.2210-2342del
XR_936512.2:n.2155+13del
NM_001207055.2:c.2046-2342del NP_001193984.1:n.2046-2342del
NM_001207056.2:c.1944-2342del NP_001193985.1:n.1944-2342del
NM_006892.4:c.2301+13del MANE Select NP_008823.1:n.2301+13del
NM_175848.2:c.2241+13del NP_787044.1:n.2241+13del
NM_175849.2:c.2172-2342del NP_787045.1:n.2172-2342del
NM_175850.3:c.2277+13del NP_787046.1:n.2277+13del