Canonical Allele Identifier: CA6985668

Gene: RNASEH2B

Linked Data

• dbSNP Id: rs756357546
• ExAC: 13:51522226 TC / T
• gnomAD v2: 13-51522226-TC-T
• gnomAD v4: 13-50948090-TC-T
• MyVariant Identifiers: chr13:g.51522227del (hg19) ; chr13:g.50948091del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.50948091del , CM000675.2:g.50948091del	GRCh38
NC_000013.10:g.51522227del , CM000675.1:g.51522227del	GRCh37
NC_000013.9:g.50420228del	NCBI36
NG_009055.1:g.43336del , LRG_279:g.43336del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336617.8:c.698+23del MANE Select	ENSP00000337623.2:n.698+23del
ENST00000422660.6:c.698+23del	ENSP00000389877.1:n.698+23del
ENST00000459681.3:n.381+23del
ENST00000465541.2:n.5+23del
ENST00000495244.7:n.709+23del
ENST00000611510.5:c.608+23del	ENSP00000481236.3:n.608+23del
ENST00000616907.2:c.698+23del	ENSP00000482701.2:n.698+23del
ENST00000642207.1:c.437+23del
ENST00000642454.1:c.608+23del	ENSP00000494221.1:n.608+23del
ENST00000642721.1:c.698+23del	ENSP00000495650.1:n.698+23del
ENST00000642995.1:c.581+23del	ENSP00000493499.1:n.581+23del
ENST00000643159.1:c.608+23del	ENSP00000495587.1:n.608+23del
ENST00000643215.1:c.568+23del
ENST00000643405.1:c.346+23del
ENST00000643529.1:c.211+23del
ENST00000643682.1:c.698+23del	ENSP00000493655.1:n.698+23del
ENST00000643774.1:c.662+23del	ENSP00000495482.1:n.662+23del
ENST00000644034.1:c.146+23del	ENSP00000495456.1:n.146+23del
ENST00000644183.1:c.588+23del	ENSP00000495657.1:n.588+23del
ENST00000644297.1:c.*556+23del	ENSP00000495519.1:n.*556+23del
ENST00000644420.1:n.724+23del
ENST00000644425.1:c.649+23del
ENST00000644518.1:c.*565+23del	ENSP00000495793.1:n.*565+23del
ENST00000645188.1:c.689+23del	ENSP00000496224.1:n.689+23del
ENST00000645201.1:n.95+23del
ENST00000645333.1:n.653del
ENST00000645370.1:c.533+23del	ENSP00000494019.1:n.533+23del
ENST00000645618.1:c.608+23del	ENSP00000495429.1:n.608+23del
ENST00000645712.1:n.722+23del
ENST00000645912.1:c.36+23del
ENST00000645955.1:c.698+23del	ENSP00000495755.1:n.698+23del
ENST00000645990.1:c.698+23del	ENSP00000496571.1:n.698+23del
ENST00000646092.1:c.662+23del	ENSP00000496293.1:n.662+23del
ENST00000646279.1:n.995+23del
ENST00000646339.1:c.360+23del	ENSP00000495773.1:n.360+23del
ENST00000646709.1:c.608+23del	ENSP00000495278.1:n.608+23del
ENST00000646731.1:c.689+23del	ENSP00000493828.1:n.689+23del
ENST00000646960.1:c.698+23del	ENSP00000496481.1:n.698+23del
ENST00000646964.1:n.1337+23del
ENST00000647387.1:c.608+23del	ENSP00000495487.1:n.608+23del
ENST00000336617.7:c.698+23del	ENSP00000337623.2:n.698+23del
ENST00000422660.5:c.698+23del	ENSP00000389877.1:n.698+23del
ENST00000495244.6:n.709+23del
ENST00000611510.4:c.698+23del	ENSP00000481236.2:n.698+23del
ENST00000613449.4:n.2760+23del
ENST00000616907.1:c.81+23del
ENST00000621641.1:n.286+23del
NM_001142279.2:c.698+23del , LRG_279t1:c.698+23del	NP_001135751.1:n.698+23del
NM_024570.3:c.698+23del , LRG_279t2:c.698+23del	NP_078846.2:n.698+23del
XM_005266524.2:c.698+23del	XP_005266581.1:n.698+23del
XM_005266525.2:c.698+23del	XP_005266582.1:n.698+23del
XM_006719867.2:c.680+23del	XP_006719930.1:n.680+23del
XM_011535229.1:c.698+23del	XP_011533531.1:n.698+23del
XM_011535230.1:c.698+23del	XP_011533532.1:n.698+23del
XM_011535231.1:c.698+23del	XP_011533533.1:n.698+23del
XM_011535232.1:c.536+23del	XP_011533534.1:n.536+23del
XM_011535233.1:c.290+23del	XP_011533535.1:n.290+23del
XM_006719867.4:c.680+23del	XP_006719930.1:n.680+23del
XM_011535230.2:c.698+23del	XP_011533532.1:n.698+23del
XM_011535231.2:c.698+23del	XP_011533533.1:n.698+23del
XM_011535233.2:c.290+23del	XP_011533535.1:n.290+23del
XM_017020747.1:c.698+23del	XP_016876236.1:n.698+23del
NM_024570.4:c.698+23del MANE Select	NP_078846.2:n.698+23del