Canonical Allele Identifier: CA2652423853

Gene: DNMT3B

Linked Data

• gnomAD v4: 20-32807845-G-GCGTGCCTGTCATC

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32807848_32807860dup , CM000682.2:g.32807848_32807860dup	GRCh38
NC_000020.10:g.31395654_31395666dup , CM000682.1:g.31395654_31395666dup	GRCh37
NC_000020.9:g.30859315_30859327dup	NCBI36
NG_007290.1:g.50464_50476dup , LRG_56:g.50464_50476dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696231.1:c.*1458_*1470dup	ENSP00000512497.1:n.*1458_*1470dup
ENST00000696232.1:c.2318_2330dup	ENSP00000512498.1:p.His778AlafsTer17
ENST00000696233.1:c.*1061_*1073dup	ENSP00000512499.1:n.*1061_*1073dup
ENST00000696238.1:c.*1250_*1262dup	ENSP00000512502.1:n.*1250_*1262dup
ENST00000696239.1:c.2288_2300dup	ENSP00000512503.1:p.His768AlafsTer17
ENST00000696245.1:n.532_544dup
ENST00000201963.3:c.2483_2495dup	ENSP00000201963.3:p.His833AlafsTer17
ENST00000328111.6:c.2507_2519dup MANE Select	ENSP00000328547.2:p.His841AlafsTer17
ENST00000348286.6:c.2258_2270dup	ENSP00000337764.2:p.His758AlafsTer17
ENST00000353855.6:c.2447_2459dup	ENSP00000313397.4:p.His821AlafsTer17
ENST00000443239.7:c.2132_2144dup	ENSP00000403169.2:p.His716AlafsTer17
ENST00000456297.6:c.2030_2042dup	ENSP00000412305.1:p.His682AlafsTer17
NM_001207055.1:c.2132_2144dup	NP_001193984.1:p.His716AlafsTer17
NM_001207056.1:c.2030_2042dup	NP_001193985.1:p.His682AlafsTer17
NM_006892.3:c.2507_2519dup , LRG_56t1:c.2507_2519dup	NP_008823.1:p.His841AlafsTer17
NM_175848.1:c.2447_2459dup	NP_787044.1:p.His821AlafsTer17
NM_175849.1:c.2258_2270dup	NP_787045.1:p.His758AlafsTer17
NM_175850.2:c.2483_2495dup	NP_787046.1:p.His833AlafsTer17
XM_011528653.1:c.2294_2306dup	XP_011526955.1:p.His770AlafsTer17
XM_011528654.1:c.2168_2180dup	XP_011526956.1:p.His728AlafsTer17
XR_936511.1:n.2285_2297dup
XM_011528653.2:c.2294_2306dup	XP_011526955.1:p.His770AlafsTer17
XM_011528654.2:c.2168_2180dup	XP_011526956.1:p.His728AlafsTer17
XR_936511.2:n.2296_2308dup
NM_001207055.2:c.2132_2144dup	NP_001193984.1:p.His716AlafsTer17
NM_001207056.2:c.2030_2042dup	NP_001193985.1:p.His682AlafsTer17
NM_006892.4:c.2507_2519dup MANE Select	NP_008823.1:p.His841AlafsTer17
NM_175848.2:c.2447_2459dup	NP_787044.1:p.His821AlafsTer17
NM_175849.2:c.2258_2270dup	NP_787045.1:p.His758AlafsTer17
NM_175850.3:c.2483_2495dup	NP_787046.1:p.His833AlafsTer17