Canonical Allele Identifier: CA9810239

Gene: DNMT3B

Linked Data

• dbSNP Id: rs781234719
• ExAC: 20:31375124 CAG / C
• gnomAD v4: 20-32787318-CAG-C
• MyVariant Identifiers: chr20:g.31375125_31375126del (hg19) ; chr20:g.32787319_32787320del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32787321_32787322del , CM000682.2:g.32787321_32787322del	GRCh38
NC_000020.10:g.31375127_31375128del , CM000682.1:g.31375127_31375128del	GRCh37
NC_000020.9:g.30838788_30838789del	NCBI36
NG_007290.1:g.29937_29938del , LRG_56:g.29937_29938del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696231.1:c.524_525del	ENSP00000512497.1:p.Glu175GlyfsTer?
ENST00000696232.1:c.524_525del	ENSP00000512498.1:p.Glu175GlyfsTer?
ENST00000696233.1:c.524_525del	ENSP00000512499.1:p.Glu175GlyfsTer?
ENST00000696234.1:n.508_509del
ENST00000696235.1:c.398_399del	ENSP00000512500.1:p.Glu133GlyfsTer?
ENST00000696236.1:c.398_399del	ENSP00000512501.1:p.Glu133GlyfsTer?
ENST00000696237.1:n.630_631del
ENST00000696238.1:c.524_525del	ENSP00000512502.1:p.Glu175GlyfsTer?
ENST00000696239.1:c.524_525del	ENSP00000512503.1:p.Glu175GlyfsTer?
ENST00000201963.3:c.560_561del	ENSP00000201963.3:p.Glu187GlyfsTer?
ENST00000328111.6:c.524_525del MANE Select	ENSP00000328547.2:p.Glu175GlyfsTer?
ENST00000348286.6:c.524_525del	ENSP00000337764.2:p.Glu175GlyfsTer?
ENST00000353855.6:c.524_525del	ENSP00000313397.4:p.Glu175GlyfsTer?
ENST00000443239.7:c.398_399del	ENSP00000403169.2:p.Glu133GlyfsTer?
ENST00000456297.6:c.296_297del	ENSP00000412305.1:p.Glu99GlyfsTer?
NM_001207055.1:c.398_399del	NP_001193984.1:p.Glu133GlyfsTer?
NM_001207056.1:c.296_297del	NP_001193985.1:p.Glu99GlyfsTer?
NM_006892.3:c.524_525del , LRG_56t1:c.524_525del	NP_008823.1:p.Glu175GlyfsTer?
NM_175848.1:c.524_525del	NP_787044.1:p.Glu175GlyfsTer?
NM_175849.1:c.524_525del	NP_787045.1:p.Glu175GlyfsTer?
NM_175850.2:c.560_561del	NP_787046.1:p.Glu187GlyfsTer?
XM_011528653.1:c.560_561del	XP_011526955.1:p.Glu187GlyfsTer?
XM_011528654.1:c.434_435del	XP_011526956.1:p.Glu145GlyfsTer?
XR_936510.1:n.696_697del
XR_936511.1:n.696_697del
XR_936512.1:n.571_572del
XM_011528653.2:c.560_561del	XP_011526955.1:p.Glu187GlyfsTer?
XM_011528654.2:c.434_435del	XP_011526956.1:p.Glu145GlyfsTer?
XR_936510.2:n.707_708del
XR_936511.2:n.707_708del
XR_936512.2:n.583_584del
NM_001207055.2:c.398_399del	NP_001193984.1:p.Glu133GlyfsTer?
NM_001207056.2:c.296_297del	NP_001193985.1:p.Glu99GlyfsTer?
NM_006892.4:c.524_525del MANE Select	NP_008823.1:p.Glu175GlyfsTer?
NM_175848.2:c.524_525del	NP_787044.1:p.Glu175GlyfsTer?
NM_175849.2:c.524_525del	NP_787045.1:p.Glu175GlyfsTer?
NM_175850.3:c.560_561del	NP_787046.1:p.Glu187GlyfsTer?