Canonical Allele Identifier: CA2739277118
Gene: DNMT3B HGNC NCBI

Linked Data

ClinVar Variation Id: 2817110
ClinVar RCV Id: RCV003760927

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32805425_32805428del , CM000682.2:g.32805425_32805428del GRCh38
NC_000020.10:g.31393231_31393234del , CM000682.1:g.31393231_31393234del GRCh37
NC_000020.9:g.30856892_30856895del NCBI36
NG_007290.1:g.48041_48044del , LRG_56:g.48041_48044del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696231.1:c.*1252+18_*1252+21del ENSP00000512497.1:n.*1252+18_*1252+21del
ENST00000696232.1:c.2232-2337_2232-2334del ENSP00000512498.1:n.2232-2337_2232-2334del
ENST00000696233.1:c.*975-2337_*975-2334del ENSP00000512499.1:n.*975-2337_*975-2334del
ENST00000696238.1:c.*1044+18_*1044+21del ENSP00000512502.1:n.*1044+18_*1044+21del
ENST00000696239.1:c.2082+18_2082+21del ENSP00000512503.1:n.2082+18_2082+21del
ENST00000696245.1:n.327-784_327-781del
ENST00000201963.3:c.2277+18_2277+21del ENSP00000201963.3:n.2277+18_2277+21del
ENST00000328111.6:c.2301+18_2301+21del MANE Select ENSP00000328547.2:n.2301+18_2301+21del
ENST00000348286.6:c.2172-2337_2172-2334del ENSP00000337764.2:n.2172-2337_2172-2334del
ENST00000353855.6:c.2241+18_2241+21del ENSP00000313397.4:n.2241+18_2241+21del
ENST00000443239.7:c.2046-2337_2046-2334del ENSP00000403169.2:n.2046-2337_2046-2334del
ENST00000456297.6:c.1944-2337_1944-2334del ENSP00000412305.1:n.1944-2337_1944-2334del
NM_001207055.1:c.2046-2337_2046-2334del NP_001193984.1:n.2046-2337_2046-2334del
NM_001207056.1:c.1944-2337_1944-2334del NP_001193985.1:n.1944-2337_1944-2334del
NM_006892.3:c.2301+18_2301+21del , LRG_56t1:c.2301+18_2301+21del NP_008823.1:n.2301+18_2301+21del
NM_175848.1:c.2241+18_2241+21del NP_787044.1:n.2241+18_2241+21del
NM_175849.1:c.2172-2337_2172-2334del NP_787045.1:n.2172-2337_2172-2334del
NM_175850.2:c.2277+18_2277+21del NP_787046.1:n.2277+18_2277+21del
XM_011528653.1:c.2208-2337_2208-2334del XP_011526955.1:n.2208-2337_2208-2334del
XM_011528654.1:c.2082-2337_2082-2334del XP_011526956.1:n.2082-2337_2082-2334del
XR_936510.1:n.2268+18_2268+21del
XR_936511.1:n.2199-2337_2199-2334del
XR_936512.1:n.2143+18_2143+21del
XM_011528653.2:c.2208-2337_2208-2334del XP_011526955.1:n.2208-2337_2208-2334del
XM_011528654.2:c.2082-2337_2082-2334del XP_011526956.1:n.2082-2337_2082-2334del
XR_936510.2:n.2279+18_2279+21del
XR_936511.2:n.2210-2337_2210-2334del
XR_936512.2:n.2155+18_2155+21del
NM_001207055.2:c.2046-2337_2046-2334del NP_001193984.1:n.2046-2337_2046-2334del
NM_001207056.2:c.1944-2337_1944-2334del NP_001193985.1:n.1944-2337_1944-2334del
NM_006892.4:c.2301+18_2301+21del MANE Select NP_008823.1:n.2301+18_2301+21del
NM_175848.2:c.2241+18_2241+21del NP_787044.1:n.2241+18_2241+21del
NM_175849.2:c.2172-2337_2172-2334del NP_787045.1:n.2172-2337_2172-2334del
NM_175850.3:c.2277+18_2277+21del NP_787046.1:n.2277+18_2277+21del