gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132642204del , CM000667.2:g.132642204del | GRCh38 |
| NC_000005.9:g.131977896del , CM000667.1:g.131977896del | GRCh37 |
| NC_000005.8:g.132005795del | NCBI36 |
| NG_021151.1:g.90281del | |
| NG_021151.2:g.90228del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.3779del (RAD50) MANE Select | ENSP00000368100.4:p.Arg1260LeufsTer7 | |
| ENST00000638452.2:c.3482del | ENSP00000492349.2:p.Arg1161LeufsTer7 | |
| ENST00000638504.1:n.3387del | ||
| ENST00000638568.2:c.3482del | ENSP00000491158.2:p.Arg1161LeufsTer7 | |
| ENST00000639899.1:n.4298del | ||
| ENST00000640655.2:c.3482del | ENSP00000491596.2:p.Arg1161LeufsTer7 | |
| ENST00000651249.1:c.615del (RAD50) | ||
| ENST00000378823.7:c.3779del (RAD50) | ENSP00000368100.4:p.Arg1260LeufsTer7 | |
| ENST00000455677.1:c.388-801del (RAD50) | ||
| ENST00000533482.5:c.*3405del (RAD50) | ENSP00000431225.1:n.*3405del | |
| NM_005732.3:c.3779del (RAD50) | NP_005723.2:p.Arg1260LeufsTer7 | |
| NR_132125.1:n.183del (TH2LCRR) | ||
| NR_132126.1:n.175-3939del (TH2LCRR) | ||
| NM_005732.4:c.3779del (RAD50) MANE Select | NP_005723.2:p.Arg1260LeufsTer7 |