Canonical Allele Identifier: CA634807843

Gene: DNMT3B

Linked Data

• dbSNP Id: rs1313843558
• gnomAD v2: 20-31393231-CCT-C
• gnomAD v4: 20-32805425-CCT-C
• MyVariant Identifiers: chr20:g.31393232_31393233del (hg19) ; chr20:g.32805426_32805427del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32805428_32805429del , CM000682.2:g.32805428_32805429del	GRCh38
NC_000020.10:g.31393234_31393235del , CM000682.1:g.31393234_31393235del	GRCh37
NC_000020.9:g.30856895_30856896del	NCBI36
NG_007290.1:g.48044_48045del , LRG_56:g.48044_48045del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696231.1:c.*1252+21_*1252+22del	ENSP00000512497.1:n.*1252+21_*1252+22del
ENST00000696232.1:c.2232-2334_2232-2333del	ENSP00000512498.1:n.2232-2334_2232-2333del
ENST00000696233.1:c.*975-2334_*975-2333del	ENSP00000512499.1:n.*975-2334_*975-2333del
ENST00000696238.1:c.*1044+21_*1044+22del	ENSP00000512502.1:n.*1044+21_*1044+22del
ENST00000696239.1:c.2082+21_2082+22del	ENSP00000512503.1:n.2082+21_2082+22del
ENST00000696245.1:n.327-781_327-780del
ENST00000201963.3:c.2277+21_2277+22del	ENSP00000201963.3:n.2277+21_2277+22del
ENST00000328111.6:c.2301+21_2301+22del MANE Select	ENSP00000328547.2:n.2301+21_2301+22del
ENST00000348286.6:c.2172-2334_2172-2333del	ENSP00000337764.2:n.2172-2334_2172-2333del
ENST00000353855.6:c.2241+21_2241+22del	ENSP00000313397.4:n.2241+21_2241+22del
ENST00000443239.7:c.2046-2334_2046-2333del	ENSP00000403169.2:n.2046-2334_2046-2333del
ENST00000456297.6:c.1944-2334_1944-2333del	ENSP00000412305.1:n.1944-2334_1944-2333del
NM_001207055.1:c.2046-2334_2046-2333del	NP_001193984.1:n.2046-2334_2046-2333del
NM_001207056.1:c.1944-2334_1944-2333del	NP_001193985.1:n.1944-2334_1944-2333del
NM_006892.3:c.2301+21_2301+22del , LRG_56t1:c.2301+21_2301+22del	NP_008823.1:n.2301+21_2301+22del
NM_175848.1:c.2241+21_2241+22del	NP_787044.1:n.2241+21_2241+22del
NM_175849.1:c.2172-2334_2172-2333del	NP_787045.1:n.2172-2334_2172-2333del
NM_175850.2:c.2277+21_2277+22del	NP_787046.1:n.2277+21_2277+22del
XM_011528653.1:c.2208-2334_2208-2333del	XP_011526955.1:n.2208-2334_2208-2333del
XM_011528654.1:c.2082-2334_2082-2333del	XP_011526956.1:n.2082-2334_2082-2333del
XR_936510.1:n.2268+21_2268+22del
XR_936511.1:n.2199-2334_2199-2333del
XR_936512.1:n.2143+21_2143+22del
XM_011528653.2:c.2208-2334_2208-2333del	XP_011526955.1:n.2208-2334_2208-2333del
XM_011528654.2:c.2082-2334_2082-2333del	XP_011526956.1:n.2082-2334_2082-2333del
XR_936510.2:n.2279+21_2279+22del
XR_936511.2:n.2210-2334_2210-2333del
XR_936512.2:n.2155+21_2155+22del
NM_001207055.2:c.2046-2334_2046-2333del	NP_001193984.1:n.2046-2334_2046-2333del
NM_001207056.2:c.1944-2334_1944-2333del	NP_001193985.1:n.1944-2334_1944-2333del
NM_006892.4:c.2301+21_2301+22del MANE Select	NP_008823.1:n.2301+21_2301+22del
NM_175848.2:c.2241+21_2241+22del	NP_787044.1:n.2241+21_2241+22del
NM_175849.2:c.2172-2334_2172-2333del	NP_787045.1:n.2172-2334_2172-2333del
NM_175850.3:c.2277+21_2277+22del	NP_787046.1:n.2277+21_2277+22del