Linked Data
gnomAD v3:
22-29696066-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4:
22-29696066-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29696089_29696090insTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000684.2:g.29696089_29696090insTTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000022.10:g.30092078_30092079insTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000684.1:g.30092078_30092079insTTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000022.9:g.28422078_28422079insTTTTTTTTTTTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_009057.1:g.97534_97535insTTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_511:g.97534_97535insTTTTTTTTTTTTTTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338641.10:c.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select | ENSP00000344666.5:n.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000672461.1:c.*501+846_*501+847insTTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000500919.1:n.*501+846_*501+847insTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000672896.1:c.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000500117.1:n.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000338641.8:c.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000344666.4:n.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000361452.8:c.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000354897.4:n.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000413209.6:c.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000409921.2:n.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_000268.3:c.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_511t1:c.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_000259.1:n.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_016418.5:c.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_511t2:c.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_057502.2:n.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_181828.2:c.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_861966.1:n.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_181829.2:c.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_861967.1:n.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_181830.2:c.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_861968.1:n.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_181832.2:c.*1362_*1363insTTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_861970.1:n.*1362_*1363insTTTTTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_181833.2:c.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_861971.1:n.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTTTTT | |
| NR_156186.1:n.3634_3635insTTTTTTTTTTTTTTTTTTTTTTTTTTT | ||
| XM_017028810.1:c.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTTTTT | XP_016884299.1:n.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_000268.4:c.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select | NP_000259.1:n.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_181828.3:c.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_861966.1:n.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_181829.3:c.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_861967.1:n.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_181830.3:c.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_861968.1:n.*1347_*1348insTTTTTTTTTTTTTTTTTTTTTTTTTTT | |
| NM_181832.3:c.*1362_*1363insTTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_861970.1:n.*1362_*1363insTTTTTTTTTTTTTTTTTTTTTTTTTTT | |
| NR_156186.2:n.3557_3558insTTTTTTTTTTTTTTTTTTTTTTTTTTT | ||
| NM_181833.3:c.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_861971.1:n.*1287_*1288insTTTTTTTTTTTTTTTTTTTTTTTTTTT |