Canonical Allele Identifier: CA915948584
Gene: RNASEH2B HGNC NCBI

Linked Data

ClinVar Variation Id: 663002
ClinVar RCV Id: RCV000820778
dbSNP Id: rs1593470515

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.50943395del , CM000675.2:g.50943395del GRCh38
NC_000013.10:g.51517531del , CM000675.1:g.51517531del GRCh37
NC_000013.9:g.50415532del NCBI36
NG_009055.1:g.38640del , LRG_279:g.38640del

Transcript Alleles

HGVS Amino-acid Change
ENST00000336617.8:c.510+1del
ENST00000422660.6:c.510+1del
ENST00000459681.3:n.193+1del
ENST00000495244.7:n.521+1del
ENST00000611510.5:c.420+1del
ENST00000616907.2:c.510+1del
ENST00000642207.1:c.249+1del
ENST00000642454.1:c.420+1del
ENST00000642721.1:c.510+1del
ENST00000642995.1:c.393+1del
ENST00000643159.1:c.420+1del
ENST00000643215.1:c.380+1del
ENST00000643405.1:c.158+1del
ENST00000643529.1:c.23+1del
ENST00000643682.1:c.510+1del
ENST00000643774.1:c.474+1del
ENST00000644034.1:c.65-4592del ENSP00000495456.1:n.65-4592del
ENST00000644183.1:c.400+1del
ENST00000644297.1:c.*368+1del
ENST00000644420.1:n.536+1del
ENST00000644425.1:c.461+1del
ENST00000644518.1:c.*377+1del
ENST00000645188.1:c.501+1del
ENST00000645333.1:n.442+1del
ENST00000645370.1:c.345+1del
ENST00000645618.1:c.420+1del
ENST00000645712.1:n.534+1del
ENST00000645955.1:c.510+1del
ENST00000645990.1:c.510+1del
ENST00000646092.1:c.474+1del
ENST00000646279.1:n.807+1del
ENST00000646339.1:c.172+1del
ENST00000646709.1:c.420+1del
ENST00000646731.1:c.501+1del
ENST00000646960.1:c.510+1del
ENST00000646964.1:n.1149+1del
ENST00000647387.1:c.420+1del
ENST00000336617.7:c.510+1del
ENST00000422660.5:c.510+1del
ENST00000495244.6:n.521+1del
ENST00000611510.4:c.510+1del
ENST00000613449.4:n.2572+1del
ENST00000621641.1:n.98+1del
NM_001142279.2:c.510+1del , LRG_279t1:c.510+1del
NM_024570.3:c.510+1del , LRG_279t2:c.510+1del
XM_005266524.2:c.510+1del
XM_005266525.2:c.510+1del
XM_006719867.2:c.492+1del
XM_011535229.1:c.510+1del
XM_011535230.1:c.510+1del
XM_011535231.1:c.510+1del
XM_011535232.1:c.348+1del
XM_011535233.1:c.102+1del
XM_011535234.1:c.509+2del XP_011533536.1:n.509+2del
XM_006719867.4:c.492+1del
XM_011535230.2:c.510+1del
XM_011535231.2:c.510+1del
XM_011535233.2:c.102+1del
XM_017020747.1:c.510+1del
NM_024570.4:c.510+1del