Canonical Allele Identifier: CA10649603

Gene: DNMT3B

Linked Data

• ClinVar Variation Id: 338201
• ClinVar RCV Id: RCV000269320
• dbSNP Id: rs398088406
• gnomAD v2: 20-31397019-AT-A
• gnomAD v3: 20-32809213-AT-A
• gnomAD v4: 20-32809213-AT-A
• COSMIC: COSN20116394 ; COSN20116395 ; COSN20116396
• MyVariant Identifiers: chr20:g.31397027del (hg19) ; chr20:g.31397021del (hg19) ; chr20:g.31397020del (hg19) ; chr20:g.32809221del (hg38) ; chr20:g.32809215del (hg38) ; chr20:g.32809214del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32809221del , CM000682.2:g.32809221del	GRCh38
NC_000020.10:g.31397027del , CM000682.1:g.31397027del	GRCh37
NC_000020.9:g.30860688del	NCBI36
NG_007290.1:g.51837del , LRG_56:g.51837del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696231.1:c.*2831del	ENSP00000512497.1:n.*2831del
ENST00000696232.1:c.*1318del	ENSP00000512498.1:n.*1318del
ENST00000696233.1:c.*2434del	ENSP00000512499.1:n.*2434del
ENST00000696238.1:c.*2623del	ENSP00000512502.1:n.*2623del
ENST00000696245.1:n.1905del
ENST00000201963.3:c.*1318del	ENSP00000201963.3:n.*1318del
ENST00000328111.6:c.*1318del MANE Select	ENSP00000328547.2:n.*1318del
ENST00000348286.6:c.*1318del	ENSP00000337764.2:n.*1318del
ENST00000353855.6:c.*1318del	ENSP00000313397.4:n.*1318del
NM_001207055.1:c.*1318del	NP_001193984.1:n.*1318del
NM_001207056.1:c.*1318del	NP_001193985.1:n.*1318del
NM_006892.3:c.*1318del , LRG_56t1:c.*1318del	NP_008823.1:n.*1318del
NM_175848.1:c.*1318del	NP_787044.1:n.*1318del
NM_175849.1:c.*1318del	NP_787045.1:n.*1318del
NM_175850.2:c.*1318del	NP_787046.1:n.*1318del
XM_011528653.1:c.*1318del	XP_011526955.1:n.*1318del
XM_011528654.1:c.*1318del	XP_011526956.1:n.*1318del
XR_936511.1:n.3658del
XM_011528653.2:c.*1318del	XP_011526955.1:n.*1318del
XM_011528654.2:c.*1318del	XP_011526956.1:n.*1318del
XR_936511.2:n.3669del
NM_001207055.2:c.*1318del	NP_001193984.1:n.*1318del
NM_001207056.2:c.*1318del	NP_001193985.1:n.*1318del
NM_006892.4:c.*1318del MANE Select	NP_008823.1:n.*1318del
NM_175848.2:c.*1318del	NP_787044.1:n.*1318del
NM_175849.2:c.*1318del	NP_787045.1:n.*1318del
NM_175850.3:c.*1318del	NP_787046.1:n.*1318del