Canonical Allele Identifier: CA2697547334
Gene: DNMT3B HGNC NCBI

Linked Data

ClinVar Variation Id: 2759325
ClinVar RCV Id: RCV003594342

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32805413dup , CM000682.2:g.32805413dup GRCh38
NC_000020.10:g.31393219dup , CM000682.1:g.31393219dup GRCh37
NC_000020.9:g.30856880dup NCBI36
NG_007290.1:g.48029dup , LRG_56:g.48029dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000696231.1:c.*1252+6dup ENSP00000512497.1:n.*1252+6dup
ENST00000696232.1:c.2232-2349dup ENSP00000512498.1:n.2232-2349dup
ENST00000696233.1:c.*975-2349dup ENSP00000512499.1:n.*975-2349dup
ENST00000696238.1:c.*1044+6dup ENSP00000512502.1:n.*1044+6dup
ENST00000696239.1:c.2082+6dup ENSP00000512503.1:n.2082+6dup
ENST00000696245.1:n.327-796dup
ENST00000201963.3:c.2277+6dup ENSP00000201963.3:n.2277+6dup
ENST00000328111.6:c.2301+6dup MANE Select ENSP00000328547.2:n.2301+6dup
ENST00000348286.6:c.2172-2349dup ENSP00000337764.2:n.2172-2349dup
ENST00000353855.6:c.2241+6dup ENSP00000313397.4:n.2241+6dup
ENST00000443239.7:c.2046-2349dup ENSP00000403169.2:n.2046-2349dup
ENST00000456297.6:c.1944-2349dup ENSP00000412305.1:n.1944-2349dup
NM_001207055.1:c.2046-2349dup NP_001193984.1:n.2046-2349dup
NM_001207056.1:c.1944-2349dup NP_001193985.1:n.1944-2349dup
NM_006892.3:c.2301+6dup , LRG_56t1:c.2301+6dup NP_008823.1:n.2301+6dup
NM_175848.1:c.2241+6dup NP_787044.1:n.2241+6dup
NM_175849.1:c.2172-2349dup NP_787045.1:n.2172-2349dup
NM_175850.2:c.2277+6dup NP_787046.1:n.2277+6dup
XM_011528653.1:c.2208-2349dup XP_011526955.1:n.2208-2349dup
XM_011528654.1:c.2082-2349dup XP_011526956.1:n.2082-2349dup
XR_936510.1:n.2268+6dup
XR_936511.1:n.2199-2349dup
XR_936512.1:n.2143+6dup
XM_011528653.2:c.2208-2349dup XP_011526955.1:n.2208-2349dup
XM_011528654.2:c.2082-2349dup XP_011526956.1:n.2082-2349dup
XR_936510.2:n.2279+6dup
XR_936511.2:n.2210-2349dup
XR_936512.2:n.2155+6dup
NM_001207055.2:c.2046-2349dup NP_001193984.1:n.2046-2349dup
NM_001207056.2:c.1944-2349dup NP_001193985.1:n.1944-2349dup
NM_006892.4:c.2301+6dup MANE Select NP_008823.1:n.2301+6dup
NM_175848.2:c.2241+6dup NP_787044.1:n.2241+6dup
NM_175849.2:c.2172-2349dup NP_787045.1:n.2172-2349dup
NM_175850.3:c.2277+6dup NP_787046.1:n.2277+6dup