Canonical Allele Identifier: CA2623044570

Gene: RNASEH2B

Linked Data

• gnomAD v4: 13-50930686-GTCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.50930690_50930692del , CM000675.2:g.50930690_50930692del	GRCh38
NC_000013.10:g.51504826_51504828del , CM000675.1:g.51504826_51504828del	GRCh37
NC_000013.9:g.50402827_50402829del	NCBI36
NG_009055.1:g.25935_25937del , LRG_279:g.25935_25937del

Transcript Alleles

HGVS	Amino-acid change
ENST00000336617.8:c.252_254del MANE Select	ENSP00000337623.2:p.Leu85del
ENST00000422660.6:c.252_254del	ENSP00000389877.1:p.Leu85del
ENST00000459681.3:n.50_52del
ENST00000495244.7:n.263_265del
ENST00000611510.5:c.162_164del	ENSP00000481236.3:p.Leu55del
ENST00000616907.2:c.252_254del	ENSP00000482701.2:p.Leu85del
ENST00000637648.2:c.162_164del	ENSP00000490077.2:p.Leu55del
ENST00000642207.1:c.106_108del
ENST00000642454.1:c.162_164del	ENSP00000494221.1:p.Leu55del
ENST00000642721.1:c.252_254del	ENSP00000495650.1:p.Leu85del
ENST00000642995.1:c.144_146del	ENSP00000493499.1:p.Leu49del
ENST00000643159.1:c.162_164del	ENSP00000495587.1:p.Leu55del
ENST00000643215.1:c.122_124del
ENST00000643462.1:c.*67_*69del	ENSP00000496130.1:n.*67_*69del
ENST00000643682.1:c.252_254del	ENSP00000493655.1:p.Leu85del
ENST00000643774.1:c.216_218del	ENSP00000495482.1:p.Leu73del
ENST00000644034.1:c.65-17297_65-17295del	ENSP00000495456.1:n.65-17297_65-17295del
ENST00000644183.1:c.211+1108_211+1110del	ENSP00000495657.1:n.211+1108_211+1110del
ENST00000644297.1:c.*119_*121del	ENSP00000495519.1:n.*119_*121del
ENST00000644420.1:n.278_280del
ENST00000644425.1:c.203_205del
ENST00000644518.1:c.*119_*121del	ENSP00000495793.1:n.*119_*121del
ENST00000645188.1:c.252_254del	ENSP00000496224.1:p.Leu85del
ENST00000645333.1:n.184_186del
ENST00000645370.1:c.87_89del	ENSP00000494019.1:p.Leu30del
ENST00000645549.1:n.516_518del
ENST00000645618.1:c.162_164del	ENSP00000495429.1:p.Leu55del
ENST00000645712.1:n.285_287del
ENST00000645955.1:c.252_254del	ENSP00000495755.1:p.Leu85del
ENST00000645990.1:c.252_254del	ENSP00000496571.1:p.Leu85del
ENST00000646092.1:c.216_218del	ENSP00000496293.1:p.Leu73del
ENST00000646279.1:n.549_551del
ENST00000646709.1:c.162_164del	ENSP00000495278.1:p.Leu55del
ENST00000646731.1:c.252_254del	ENSP00000493828.1:p.Leu85del
ENST00000646960.1:c.252_254del	ENSP00000496481.1:p.Leu85del
ENST00000647387.1:c.162_164del	ENSP00000495487.1:p.Leu55del
ENST00000336617.7:c.252_254del	ENSP00000337623.2:p.Leu85del
ENST00000422660.5:c.252_254del	ENSP00000389877.1:p.Leu85del
ENST00000459681.2:n.50_52del
ENST00000495244.6:n.263_265del
ENST00000611510.4:c.252_254del	ENSP00000481236.2:p.Leu85del
NM_001142279.2:c.252_254del , LRG_279t1:c.252_254del	NP_001135751.1:p.Leu85del
NM_024570.3:c.252_254del , LRG_279t2:c.252_254del	NP_078846.2:p.Leu85del
XM_005266524.2:c.252_254del	XP_005266581.1:p.Leu85del
XM_005266525.2:c.252_254del	XP_005266582.1:p.Leu85del
XM_006719867.2:c.234_236del	XP_006719930.1:p.Leu79del
XM_011535229.1:c.252_254del	XP_011533531.1:p.Leu85del
XM_011535230.1:c.252_254del	XP_011533532.1:p.Leu85del
XM_011535231.1:c.252_254del	XP_011533533.1:p.Leu85del
XM_011535232.1:c.90_92del	XP_011533534.1:p.Leu31del
XM_011535233.1:c.-362_-360del	XP_011533535.1:n.-362_-360del
XM_011535234.1:c.252_254del	XP_011533536.1:p.Leu85del
XM_006719867.4:c.234_236del	XP_006719930.1:p.Leu79del
XM_011535230.2:c.252_254del	XP_011533532.1:p.Leu85del
XM_011535231.2:c.252_254del	XP_011533533.1:p.Leu85del
XM_011535233.2:c.-362_-360del	XP_011533535.1:n.-362_-360del
XM_017020747.1:c.252_254del	XP_016876236.1:p.Leu85del
NM_024570.4:c.252_254del MANE Select	NP_078846.2:p.Leu85del