Linked Data
ClinVar Variation Id:
310583
dbSNP Id:
rs886049876
gnomAD v3:
12-88049037-TTTTA-T
gnomAD v4:
12-88049037-TTTTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88049044_88049047del , CM000674.2:g.88049044_88049047del | GRCh38 |
| NC_000012.11:g.88442821_88442824del , CM000674.1:g.88442821_88442824del | GRCh37 |
| NC_000012.10:g.86966952_86966955del | NCBI36 |
| NG_008417.1:g.98176_98179del | |
| NG_008417.2:g.98176_98179del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.*143_*146del (CEP290) | ENSP00000308021.8:n.*143_*146del | |
| ENST00000356891.4:c.*622_*625del (RLIG1) MANE Select | ENSP00000349358.3:n.*622_*625del | |
| ENST00000547691.8:c.4552_4555del (CEP290) | ||
| ENST00000552810.6:c.*143_*146del (CEP290) MANE Select | ENSP00000448012.1:n.*143_*146del | |
| ENST00000671777.2:n.1362_1365del (CEP290) | ||
| ENST00000672414.2:c.*5589_*5592del (CEP290) | ENSP00000500729.1:n.*5589_*5592del | |
| ENST00000672647.1:n.5943_5946del (CEP290) | ||
| ENST00000673058.2:c.*143_*146del (CEP290) | ENSP00000500665.2:n.*143_*146del | |
| ENST00000674712.1:n.1110_1113del (CEP290) | ||
| ENST00000674889.1:n.4536_4539del (CEP290) | ||
| ENST00000674971.1:c.*540_*543del (CEP290) | ENSP00000502194.1:n.*540_*543del | |
| ENST00000675230.1:c.*143_*146del (CEP290) | ENSP00000502503.1:n.*143_*146del | |
| ENST00000675408.1:c.*143_*146del (CEP290) | ENSP00000502298.1:n.*143_*146del | |
| ENST00000675476.1:c.*143_*146del (CEP290) | ENSP00000502161.1:n.*143_*146del | |
| ENST00000675628.1:n.9565_9568del (CEP290) | ||
| ENST00000675794.1:c.*5754_*5757del (CEP290) | ENSP00000502841.1:n.*5754_*5757del | |
| ENST00000675833.1:c.*143_*146del (CEP290) | ENSP00000502559.1:n.*143_*146del | |
| ENST00000675894.1:n.3888_3891del (CEP290) | ||
| ENST00000676074.1:c.*540_*543del (CEP290) | ENSP00000502079.1:n.*540_*543del | |
| ENST00000676181.1:n.8266_8269del (CEP290) | ||
| ENST00000676190.1:n.3777_3780del (CEP290) | ||
| ENST00000676363.1:n.13309_13312del (CEP290) | ||
| ENST00000309041.11:c.7589_7592del (CEP290) | ENSP00000308021.7:n.7589_7592del | |
| ENST00000356891.3:c.*622_*625del (RLIG1) | ENSP00000349358.3:n.*622_*625del | |
| ENST00000547691.6:c.*143_*146del (CEP290) | ENSP00000446905.1:n.*143_*146del | |
| ENST00000550333.5:c.*1365_*1368del (RLIG1) | ENSP00000448194.1:n.*1365_*1368del | |
| ENST00000552121.5:c.*1167_*1170del (RLIG1) | ENSP00000447327.1:n.*1167_*1170del | |
| ENST00000552810.5:c.*143_*146del (CEP290) | ENSP00000448012.1:n.*143_*146del | |
| NM_001009894.2:c.*622_*625del (RLIG1) | NP_001009894.2:n.*622_*625del | |
| NM_025114.3:c.*143_*146del (CEP290) | NP_079390.3:n.*143_*146del | |
| XM_011538756.1:c.*143_*146del (CEP290) | XP_011537058.1:n.*143_*146del | |
| XM_011538757.1:c.*143_*146del (CEP290) | XP_011537059.1:n.*143_*146del | |
| XM_011538758.1:c.*143_*146del (CEP290) | XP_011537060.1:n.*143_*146del | |
| XM_011538759.1:c.*143_*146del (CEP290) | XP_011537061.1:n.*143_*146del | |
| XM_011538760.1:c.*143_*146del (CEP290) | XP_011537062.1:n.*143_*146del | |
| XM_011538761.1:c.*143_*146del (CEP290) | XP_011537063.1:n.*143_*146del | |
| XM_011538762.1:c.*143_*146del (CEP290) | XP_011537064.1:n.*143_*146del | |
| XM_011538763.1:c.*143_*146del (CEP290) | XP_011537065.1:n.*143_*146del | |
| XM_011538766.1:c.*143_*146del (CEP290) | XP_011537068.1:n.*143_*146del | |
| XM_011538756.3:c.*143_*146del (CEP290) | XP_011537058.1:n.*143_*146del | |
| XM_011538757.3:c.*143_*146del (CEP290) | XP_011537059.1:n.*143_*146del | |
| XM_011538758.3:c.*143_*146del (CEP290) | XP_011537060.1:n.*143_*146del | |
| XM_011538759.2:c.*143_*146del (CEP290) | XP_011537061.1:n.*143_*146del | |
| XM_011538760.2:c.*143_*146del (CEP290) | XP_011537062.1:n.*143_*146del | |
| XM_011538761.2:c.*143_*146del (CEP290) | XP_011537063.1:n.*143_*146del | |
| XM_011538762.3:c.*143_*146del (CEP290) | XP_011537064.1:n.*143_*146del | |
| XM_011538763.3:c.*143_*146del (CEP290) | XP_011537065.1:n.*143_*146del | |
| XM_011538766.3:c.*143_*146del (CEP290) | XP_011537068.1:n.*143_*146del | |
| XM_017019980.2:c.*143_*146del (CEP290) | XP_016875469.1:n.*143_*146del | |
| XM_017019981.2:c.*143_*146del (CEP290) | XP_016875470.1:n.*143_*146del | |
| XM_017019983.2:c.*143_*146del (CEP290) | XP_016875472.1:n.*143_*146del | |
| NM_001009894.3:c.*622_*625del (RLIG1) MANE Select | NP_001009894.2:n.*622_*625del | |
| NM_025114.4:c.*143_*146del (CEP290) MANE Select | NP_079390.3:n.*143_*146del |