Canonical Allele Identifier: CA10582392
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Linked Data

ClinVar Variation Id: 240238
dbSNP Id: rs878854799

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132638094_132638100del , CM000667.2:g.132638094_132638100del GRCh38
NC_000005.9:g.131973786_131973792del , CM000667.1:g.131973786_131973792del GRCh37
NC_000005.8:g.132001685_132001691del NCBI36
NG_021151.1:g.86171_86177del
NG_021151.2:g.86118_86124del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3489_3495del (RAD50) MANE Select ENSP00000368100.4:p.Glu1164GlyfsTer22
ENST00000638452.2:c.3192_3198del ENSP00000492349.2:p.Glu1065GlyfsTer22
ENST00000638504.1:n.3097_3103del
ENST00000638568.2:c.3192_3198del ENSP00000491158.2:p.Glu1065GlyfsTer22
ENST00000639899.1:n.4008_4014del
ENST00000640655.2:c.3192_3198del ENSP00000491596.2:p.Glu1065GlyfsTer22
ENST00000651249.1:c.325_331del (RAD50)
ENST00000378823.7:c.3489_3495del (RAD50) ENSP00000368100.4:p.Glu1164GlyfsTer22
ENST00000455677.1:c.124_130del (RAD50)
ENST00000533482.5:c.*3115_*3121del (RAD50) ENSP00000431225.1:n.*3115_*3121del
NM_005732.3:c.3489_3495del (RAD50) NP_005723.2:p.Glu1164GlyfsTer22
NR_132124.1:n.153+58_153+64del (TH2LCRR)
NR_132125.1:n.355_361del (TH2LCRR)
NR_132126.1:n.340_346del (TH2LCRR)
NM_005732.4:c.3489_3495del (RAD50) MANE Select NP_005723.2:p.Glu1164GlyfsTer22