Canonical Allele Identifier: CA2499225727
Community Standard Title: NM_006892.4(DNMT3B):c.996del (p.Met332IlefsTer?)
Gene: DNMT3B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.32792700del , CM000682.2:g.32792700del GRCh38
NC_000020.10:g.31380506del , CM000682.1:g.31380506del GRCh37
NC_000020.9:g.30844167del NCBI36
NG_007290.1:g.35316del , LRG_56:g.35316del

Transcript Alleles

HGVS Amino-acid Change
NM_006892.4:c.996del MANE Select NP_008823.1:p.Met332IlefsTer?
ENST00000328111.6:c.996del MANE Select ENSP00000328547.2:p.Met332IlefsTer?
NM_001207055.1:c.870del NP_001193984.1:p.Met290IlefsTer?
NM_001207055.2:c.870del NP_001193984.1:p.Met290IlefsTer?
NM_001207056.1:c.768del NP_001193985.1:p.Met256IlefsTer?
NM_001207056.2:c.768del NP_001193985.1:p.Met256IlefsTer?
NM_006892.3:c.996del , LRG_56t1:c.996del NP_008823.1:p.Met332IlefsTer?
NM_175848.1:c.996del NP_787044.1:p.Met332IlefsTer?
NM_175848.2:c.996del NP_787044.1:p.Met332IlefsTer?
NM_175849.1:c.996del NP_787045.1:p.Met332IlefsTer?
NM_175849.2:c.996del NP_787045.1:p.Met332IlefsTer?
NM_175850.2:c.1032del NP_787046.1:p.Met344IlefsTer?
NM_175850.3:c.1032del NP_787046.1:p.Met344IlefsTer?
ENST00000201963.3:c.1032del ENSP00000201963.3:p.Met344IlefsTer?
ENST00000348286.6:c.996del ENSP00000337764.2:p.Met332IlefsTer?
ENST00000353855.6:c.996del ENSP00000313397.4:p.Met332IlefsTer?
ENST00000443239.7:c.870del ENSP00000403169.2:p.Met290IlefsTer?
ENST00000456297.6:c.768del ENSP00000412305.1:p.Met256IlefsTer?
ENST00000696231.1:c.996del ENSP00000512497.1:p.Met332IlefsTer?
ENST00000696232.1:c.996del ENSP00000512498.1:p.Met332IlefsTer?
ENST00000696233.1:c.996del ENSP00000512499.1:p.Met332IlefsTer?
ENST00000696234.1:n.980del
ENST00000696235.1:c.795+992del ENSP00000512500.1:n.795+992del
ENST00000696236.1:c.870del ENSP00000512501.1:p.Met290IlefsTer?
ENST00000696238.1:c.996del ENSP00000512502.1:p.Met332IlefsTer?
ENST00000696239.1:c.837del ENSP00000512503.1:p.Met279IlefsTer?
ENST00000696240.1:n.298del
ENST00000696241.1:n.285del
XM_011528653.1:c.1032del XP_011526955.1:p.Met344IlefsTer?
XM_011528653.2:c.1032del XP_011526955.1:p.Met344IlefsTer?
XM_011528654.1:c.906del XP_011526956.1:p.Met302IlefsTer?
XM_011528654.2:c.906del XP_011526956.1:p.Met302IlefsTer?
XR_936510.1:n.1093+992del
XR_936510.2:n.1104+992del
XR_936511.1:n.1093+992del
XR_936511.2:n.1104+992del
XR_936512.1:n.968+992del
XR_936512.2:n.980+992del