ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132642209_132642211dup , CM000667.2:g.132642209_132642211dup | GRCh38 |
| NC_000005.9:g.131977901_131977903dup , CM000667.1:g.131977901_131977903dup | GRCh37 |
| NC_000005.8:g.132005800_132005802dup | NCBI36 |
| NG_021151.1:g.90286_90288dup | |
| NG_021151.2:g.90233_90235dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.3784_3786dup (RAD50) MANE Select | ENSP00000368100.4:p.Phe1262_Gln1263insPhe | |
| ENST00000638452.2:c.3487_3489dup | ENSP00000492349.2:p.Phe1163_Gln1164insPhe | |
| ENST00000638504.1:n.3392_3394dup | ||
| ENST00000638568.2:c.3487_3489dup | ENSP00000491158.2:p.Phe1163_Gln1164insPhe | |
| ENST00000639899.1:n.4303_4305dup | ||
| ENST00000640655.2:c.3487_3489dup | ENSP00000491596.2:p.Phe1163_Gln1164insPhe | |
| ENST00000651249.1:c.620_622dup (RAD50) | ||
| ENST00000378823.7:c.3784_3786dup (RAD50) | ENSP00000368100.4:p.Phe1262_Gln1263insPhe | |
| ENST00000455677.1:c.388-796_388-794dup (RAD50) | ||
| ENST00000533482.5:c.*3410_*3412dup (RAD50) | ENSP00000431225.1:n.*3410_*3412dup | |
| NM_005732.3:c.3784_3786dup (RAD50) | NP_005723.2:p.Phe1262_Gln1263insPhe | |
| NR_132125.1:n.177_179dup (TH2LCRR) | ||
| NR_132126.1:n.175-3945_175-3943dup (TH2LCRR) | ||
| NM_005732.4:c.3784_3786dup (RAD50) MANE Select | NP_005723.2:p.Phe1262_Gln1263insPhe |