Canonical Allele Identifier: CA2623044683

Gene: RNASEH2B

Linked Data

• gnomAD v4: 13-50930744-AAAGGCTGAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.50930749_50930757del , CM000675.2:g.50930749_50930757del	GRCh38
NC_000013.10:g.51504885_51504893del , CM000675.1:g.51504885_51504893del	GRCh37
NC_000013.9:g.50402886_50402894del	NCBI36
NG_009055.1:g.25994_26002del , LRG_279:g.25994_26002del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336617.8:c.311_319del MANE Select	ENSP00000337623.2:p.Ala104_Lys106del
ENST00000422660.6:c.311_319del	ENSP00000389877.1:p.Ala104_Lys106del
ENST00000459681.3:n.109_117del
ENST00000495244.7:n.322_330del
ENST00000611510.5:c.221_229del	ENSP00000481236.3:p.Ala74_Lys76del
ENST00000616907.2:c.311_319del	ENSP00000482701.2:p.Ala104_Lys106del
ENST00000637648.2:c.221_229del	ENSP00000490077.2:p.Ala74_Lys76del
ENST00000642207.1:c.165_173del
ENST00000642454.1:c.221_229del	ENSP00000494221.1:p.Ala74_Lys76del
ENST00000642721.1:c.311_319del	ENSP00000495650.1:p.Ala104_Lys106del
ENST00000642995.1:c.203_211del	ENSP00000493499.1:p.Ala68_Lys70del
ENST00000643159.1:c.221_229del	ENSP00000495587.1:p.Ala74_Lys76del
ENST00000643215.1:c.181_189del
ENST00000643462.1:c.*126_*134del	ENSP00000496130.1:n.*126_*134del
ENST00000643682.1:c.311_319del	ENSP00000493655.1:p.Ala104_Lys106del
ENST00000643774.1:c.275_283del	ENSP00000495482.1:p.Ala92_Lys94del
ENST00000644034.1:c.65-17238_65-17230del	ENSP00000495456.1:n.65-17238_65-17230del
ENST00000644183.1:c.211+1167_211+1175del	ENSP00000495657.1:n.211+1167_211+1175del
ENST00000644297.1:c.*178_*186del	ENSP00000495519.1:n.*178_*186del
ENST00000644420.1:n.337_345del
ENST00000644425.1:c.262_270del
ENST00000644518.1:c.*178_*186del	ENSP00000495793.1:n.*178_*186del
ENST00000645188.1:c.311_319del	ENSP00000496224.1:p.Ala104_Lys106del
ENST00000645333.1:n.243_251del
ENST00000645370.1:c.146_154del	ENSP00000494019.1:p.Ala49_Lys51del
ENST00000645549.1:n.575_583del
ENST00000645618.1:c.221_229del	ENSP00000495429.1:p.Ala74_Lys76del
ENST00000645712.1:n.344_352del
ENST00000645955.1:c.311_319del	ENSP00000495755.1:p.Ala104_Lys106del
ENST00000645990.1:c.311_319del	ENSP00000496571.1:p.Ala104_Lys106del
ENST00000646092.1:c.275_283del	ENSP00000496293.1:p.Ala92_Lys94del
ENST00000646279.1:n.608_616del
ENST00000646709.1:c.221_229del	ENSP00000495278.1:p.Ala74_Lys76del
ENST00000646731.1:c.311_319del	ENSP00000493828.1:p.Ala104_Lys106del
ENST00000646960.1:c.311_319del	ENSP00000496481.1:p.Ala104_Lys106del
ENST00000647387.1:c.221_229del	ENSP00000495487.1:p.Ala74_Lys76del
ENST00000336617.7:c.311_319del	ENSP00000337623.2:p.Ala104_Lys106del
ENST00000422660.5:c.311_319del	ENSP00000389877.1:p.Ala104_Lys106del
ENST00000459681.2:n.109_117del
ENST00000495244.6:n.322_330del
ENST00000611510.4:c.311_319del	ENSP00000481236.2:p.Ala104_Lys106del
NM_001142279.2:c.311_319del , LRG_279t1:c.311_319del	NP_001135751.1:p.Ala104_Lys106del
NM_024570.3:c.311_319del , LRG_279t2:c.311_319del	NP_078846.2:p.Ala104_Lys106del
XM_005266524.2:c.311_319del	XP_005266581.1:p.Ala104_Lys106del
XM_005266525.2:c.311_319del	XP_005266582.1:p.Ala104_Lys106del
XM_006719867.2:c.293_301del	XP_006719930.1:p.Ala98_Lys100del
XM_011535229.1:c.311_319del	XP_011533531.1:p.Ala104_Lys106del
XM_011535230.1:c.311_319del	XP_011533532.1:p.Ala104_Lys106del
XM_011535231.1:c.311_319del	XP_011533533.1:p.Ala104_Lys106del
XM_011535232.1:c.149_157del	XP_011533534.1:p.Ala50_Lys52del
XM_011535233.1:c.-303_-295del	XP_011533535.1:n.-303_-295del
XM_011535234.1:c.311_319del	XP_011533536.1:p.Ala104_Lys106del
XM_006719867.4:c.293_301del	XP_006719930.1:p.Ala98_Lys100del
XM_011535230.2:c.311_319del	XP_011533532.1:p.Ala104_Lys106del
XM_011535231.2:c.311_319del	XP_011533533.1:p.Ala104_Lys106del
XM_011535233.2:c.-303_-295del	XP_011533535.1:n.-303_-295del
XM_017020747.1:c.311_319del	XP_016876236.1:p.Ala104_Lys106del
NM_024570.4:c.311_319del MANE Select	NP_078846.2:p.Ala104_Lys106del