gnomAD v2:
gnomAD v4:
Joint Max Group AF
2.8e-7 (NFE)
Exomes Max Group AF
3e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132642297_132642318del , CM000667.2:g.132642297_132642318del | GRCh38 |
| NC_000005.9:g.131977989_131978010del , CM000667.1:g.131977989_131978010del | GRCh37 |
| NC_000005.8:g.132005888_132005909del | NCBI36 |
| NG_021151.1:g.90374_90395del | |
| NG_021151.2:g.90321_90342del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.3872_3893del (RAD50) MANE Select | ENSP00000368100.4:p.Lys1291ArgfsTer3 | |
| ENST00000638452.2:c.3575_3596del | ENSP00000492349.2:p.Lys1192ArgfsTer3 | |
| ENST00000638504.1:n.3480_3501del | ||
| ENST00000638568.2:c.3575_3596del | ENSP00000491158.2:p.Lys1192ArgfsTer3 | |
| ENST00000639899.1:n.4391_4412del | ||
| ENST00000640655.2:c.3575_3596del | ENSP00000491596.2:p.Lys1192ArgfsTer3 | |
| ENST00000651249.1:c.708_729del (RAD50) | ||
| ENST00000378823.7:c.3872_3893del (RAD50) | ENSP00000368100.4:p.Lys1291ArgfsTer3 | |
| ENST00000455677.1:c.388-708_388-687del (RAD50) | ||
| ENST00000533482.5:c.*3498_*3519del (RAD50) | ENSP00000431225.1:n.*3498_*3519del | |
| NM_005732.3:c.3872_3893del (RAD50) | NP_005723.2:p.Lys1291ArgfsTer3 | |
| NR_132125.1:n.105-35_105-14del (TH2LCRR) | ||
| NR_132126.1:n.175-4052_175-4031del (TH2LCRR) | ||
| NM_005732.4:c.3872_3893del (RAD50) MANE Select | NP_005723.2:p.Lys1291ArgfsTer3 |