Linked Data
gnomAD v3:
5-132637512-C-CTTTTTTTTTTTTTTTTTTTT
gnomAD v4:
5-132637512-C-CTTTTTTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132637522_132637523insTTTTTTTTTTTTTTTTTTTT , CM000667.2:g.132637522_132637523insTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000005.9:g.131973214_131973215insTTTTTTTTTTTTTTTTTTTT , CM000667.1:g.131973214_131973215insTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000005.8:g.132001113_132001114insTTTTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_021151.1:g.85599_85600insTTTTTTTTTTTTTTTTTTTT | |
| NG_021151.2:g.85546_85547insTTTTTTTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.3475+322_3475+323insTTTTTTTTTTTTTTTTTTTT (RAD50) MANE Select | ENSP00000368100.4:n.3475+322_3475+323insTTTTTTTTTTTTTTTTTTTT | |
| ENST00000638452.2:c.3178+322_3178+323insTTTTTTTTTTTTTTTTTTTT | ENSP00000492349.2:n.3178+322_3178+323insTTTTTTTTTTTTTTTTTTTT | |
| ENST00000638504.1:n.3083+322_3083+323insTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000638568.2:c.3178+322_3178+323insTTTTTTTTTTTTTTTTTTTT | ENSP00000491158.2:n.3178+322_3178+323insTTTTTTTTTTTTTTTTTTTT | |
| ENST00000639899.1:n.3994+322_3994+323insTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000640655.2:c.3178+322_3178+323insTTTTTTTTTTTTTTTTTTTT | ENSP00000491596.2:n.3178+322_3178+323insTTTTTTTTTTTTTTTTTTTT | |
| ENST00000651249.1:c.311+322_311+323insTTTTTTTTTTTTTTTTTTTT (RAD50) | ||
| ENST00000378823.7:c.3475+322_3475+323insTTTTTTTTTTTTTTTTTTTT (RAD50) | ENSP00000368100.4:n.3475+322_3475+323insTTTTTTTTTTTTTTTTTTTT | |
| ENST00000455677.1:c.110+322_110+323insTTTTTTTTTTTTTTTTTTTT (RAD50) | ||
| ENST00000533482.5:c.*3101+322_*3101+323insTTTTTTTTTTTTTTTTTTTT (RAD50) | ENSP00000431225.1:n.*3101+322_*3101+323insTTTTTTTTTTTTTTTTTTT... | |
| NM_005732.3:c.3475+322_3475+323insTTTTTTTTTTTTTTTTTTTT (RAD50) | NP_005723.2:n.3475+322_3475+323insTTTTTTTTTTTTTTTTTTTT | |
| NR_132124.1:n.153+645_153+646insAAAAAAAAAAAAAAAAAAAA (TH2LCRR) | ||
| NM_005732.4:c.3475+322_3475+323insTTTTTTTTTTTTTTTTTTTT (RAD50) MANE Select | NP_005723.2:n.3475+322_3475+323insTTTTTTTTTTTTTTTTTTTT |