Canonical Allele Identifier: CA2577367857
Gene: DNMT3B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32805363_32805366del , CM000682.2:g.32805363_32805366del GRCh38
NC_000020.10:g.31393169_31393172del , CM000682.1:g.31393169_31393172del GRCh37
NC_000020.9:g.30856830_30856833del NCBI36
NG_007290.1:g.47979_47982del , LRG_56:g.47979_47982del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696231.1:c.*1208_*1211del ENSP00000512497.1:n.*1208_*1211del
ENST00000696232.1:c.2232-2399_2232-2396del ENSP00000512498.1:n.2232-2399_2232-2396del
ENST00000696233.1:c.*975-2399_*975-2396del ENSP00000512499.1:n.*975-2399_*975-2396del
ENST00000696238.1:c.*1000_*1003del ENSP00000512502.1:n.*1000_*1003del
ENST00000696239.1:c.2038_2041del ENSP00000512503.1:p.Lys680SerfsTer12
ENST00000696245.1:n.327-846_327-843del
ENST00000201963.3:c.2233_2236del ENSP00000201963.3:p.Lys745SerfsTer12
ENST00000328111.6:c.2257_2260del MANE Select ENSP00000328547.2:p.Lys753SerfsTer12
ENST00000348286.6:c.2172-2399_2172-2396del ENSP00000337764.2:n.2172-2399_2172-2396del
ENST00000353855.6:c.2197_2200del ENSP00000313397.4:p.Lys733SerfsTer12
ENST00000443239.7:c.2046-2399_2046-2396del ENSP00000403169.2:n.2046-2399_2046-2396del
ENST00000456297.6:c.1944-2399_1944-2396del ENSP00000412305.1:n.1944-2399_1944-2396del
NM_001207055.1:c.2046-2399_2046-2396del NP_001193984.1:n.2046-2399_2046-2396del
NM_001207056.1:c.1944-2399_1944-2396del NP_001193985.1:n.1944-2399_1944-2396del
NM_006892.3:c.2257_2260del , LRG_56t1:c.2257_2260del NP_008823.1:p.Lys753SerfsTer12
NM_175848.1:c.2197_2200del NP_787044.1:p.Lys733SerfsTer12
NM_175849.1:c.2172-2399_2172-2396del NP_787045.1:n.2172-2399_2172-2396del
NM_175850.2:c.2233_2236del NP_787046.1:p.Lys745SerfsTer12
XM_011528653.1:c.2208-2399_2208-2396del XP_011526955.1:n.2208-2399_2208-2396del
XM_011528654.1:c.2082-2399_2082-2396del XP_011526956.1:n.2082-2399_2082-2396del
XR_936510.1:n.2224_2227del
XR_936511.1:n.2199-2399_2199-2396del
XR_936512.1:n.2099_2102del
XM_011528653.2:c.2208-2399_2208-2396del XP_011526955.1:n.2208-2399_2208-2396del
XM_011528654.2:c.2082-2399_2082-2396del XP_011526956.1:n.2082-2399_2082-2396del
XR_936510.2:n.2235_2238del
XR_936511.2:n.2210-2399_2210-2396del
XR_936512.2:n.2111_2114del
NM_001207055.2:c.2046-2399_2046-2396del NP_001193984.1:n.2046-2399_2046-2396del
NM_001207056.2:c.1944-2399_1944-2396del NP_001193985.1:n.1944-2399_1944-2396del
NM_006892.4:c.2257_2260del MANE Select NP_008823.1:p.Lys753SerfsTer12
NM_175848.2:c.2197_2200del NP_787044.1:p.Lys733SerfsTer12
NM_175849.2:c.2172-2399_2172-2396del NP_787045.1:n.2172-2399_2172-2396del
NM_175850.3:c.2233_2236del NP_787046.1:p.Lys745SerfsTer12