Canonical Allele Identifier: CA609912320

Gene: RNASEH2B

Linked Data

• dbSNP Id: rs1414715812
• gnomAD v2: 13-51517514-AGTGGCTGG-A
• gnomAD v4: 13-50943378-AGTGGCTGG-A
• MyVariant Identifiers: chr13:g.51517515_51517522del (hg19) ; chr13:g.50943379_50943386del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.50943379_50943386del , CM000675.2:g.50943379_50943386del	GRCh38
NC_000013.10:g.51517515_51517522del , CM000675.1:g.51517515_51517522del	GRCh37
NC_000013.9:g.50415516_50415523del	NCBI36
NG_009055.1:g.38624_38631del , LRG_279:g.38624_38631del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336617.8:c.495_502del MANE Select	ENSP00000337623.2:p.Trp166LysfsTer4
ENST00000422660.6:c.495_502del	ENSP00000389877.1:p.Trp166LysfsTer4
ENST00000459681.3:n.178_185del
ENST00000495244.7:n.506_513del
ENST00000611510.5:c.405_412del	ENSP00000481236.3:p.Trp136LysfsTer4
ENST00000616907.2:c.495_502del	ENSP00000482701.2:p.Trp166LysfsTer4
ENST00000642207.1:c.234_241del
ENST00000642454.1:c.405_412del	ENSP00000494221.1:p.Trp136LysfsTer4
ENST00000642721.1:c.495_502del	ENSP00000495650.1:p.Trp166LysfsTer4
ENST00000642995.1:c.378_385del	ENSP00000493499.1:p.Trp127LysfsTer4
ENST00000643159.1:c.405_412del	ENSP00000495587.1:p.Trp136LysfsTer4
ENST00000643215.1:c.365_372del
ENST00000643405.1:c.143_150del
ENST00000643529.1:c.8_15del
ENST00000643682.1:c.495_502del	ENSP00000493655.1:p.Trp166LysfsTer4
ENST00000643774.1:c.459_466del	ENSP00000495482.1:p.Trp154LysfsTer4
ENST00000644034.1:c.65-4608_65-4601del	ENSP00000495456.1:n.65-4608_65-4601del
ENST00000644183.1:c.385_392del	ENSP00000495657.1:n.385_392del
ENST00000644297.1:c.*353_*360del	ENSP00000495519.1:n.*353_*360del
ENST00000644420.1:n.521_528del
ENST00000644425.1:c.446_453del
ENST00000644518.1:c.*362_*369del	ENSP00000495793.1:n.*362_*369del
ENST00000645188.1:c.486_493del	ENSP00000496224.1:p.Trp163LysfsTer4
ENST00000645333.1:n.427_434del
ENST00000645370.1:c.330_337del	ENSP00000494019.1:p.Trp111LysfsTer4
ENST00000645618.1:c.405_412del	ENSP00000495429.1:p.Trp136LysfsTer4
ENST00000645712.1:n.519_526del
ENST00000645955.1:c.495_502del	ENSP00000495755.1:p.Trp166LysfsTer4
ENST00000645990.1:c.495_502del	ENSP00000496571.1:p.Trp166LysfsTer4
ENST00000646092.1:c.459_466del	ENSP00000496293.1:p.Trp154LysfsTer4
ENST00000646279.1:n.792_799del
ENST00000646339.1:c.157_164del	ENSP00000495773.1:n.157_164del
ENST00000646709.1:c.405_412del	ENSP00000495278.1:p.Trp136LysfsTer4
ENST00000646731.1:c.486_493del	ENSP00000493828.1:p.Trp163LysfsTer4
ENST00000646960.1:c.495_502del	ENSP00000496481.1:p.Trp166LysfsTer4
ENST00000646964.1:n.1134_1141del
ENST00000647387.1:c.405_412del	ENSP00000495487.1:p.Trp136LysfsTer4
ENST00000336617.7:c.495_502del	ENSP00000337623.2:p.Trp166LysfsTer4
ENST00000422660.5:c.495_502del	ENSP00000389877.1:p.Trp166LysfsTer4
ENST00000495244.6:n.506_513del
ENST00000611510.4:c.495_502del	ENSP00000481236.2:p.Trp166LysfsTer4
ENST00000613449.4:n.2557_2564del
ENST00000621641.1:n.83_90del
NM_001142279.2:c.495_502del , LRG_279t1:c.495_502del	NP_001135751.1:p.Trp166LysfsTer4
NM_024570.3:c.495_502del , LRG_279t2:c.495_502del	NP_078846.2:p.Trp166LysfsTer4
XM_005266524.2:c.495_502del	XP_005266581.1:p.Trp166LysfsTer4
XM_005266525.2:c.495_502del	XP_005266582.1:p.Trp166LysfsTer4
XM_006719867.2:c.477_484del	XP_006719930.1:p.Trp160LysfsTer4
XM_011535229.1:c.495_502del	XP_011533531.1:p.Trp166LysfsTer4
XM_011535230.1:c.495_502del	XP_011533532.1:p.Trp166LysfsTer4
XM_011535231.1:c.495_502del	XP_011533533.1:p.Trp166LysfsTer4
XM_011535232.1:c.333_340del	XP_011533534.1:p.Trp112LysfsTer4
XM_011535233.1:c.87_94del	XP_011533535.1:p.Trp30LysfsTer4
XM_011535234.1:c.495_502del	XP_011533536.1:p.Trp166LysfsTer11
XM_006719867.4:c.477_484del	XP_006719930.1:p.Trp160LysfsTer4
XM_011535230.2:c.495_502del	XP_011533532.1:p.Trp166LysfsTer4
XM_011535231.2:c.495_502del	XP_011533533.1:p.Trp166LysfsTer4
XM_011535233.2:c.87_94del	XP_011533535.1:p.Trp30LysfsTer4
XM_017020747.1:c.495_502del	XP_016876236.1:p.Trp166LysfsTer4
NM_024570.4:c.495_502del MANE Select	NP_078846.2:p.Trp166LysfsTer4