MyVariant.info:
GRCh37
chr12:g.88443010delinsGTT
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00039074 (AFR)
Genomes Max Group AF
0.00039803 (AFR)
Exomes Max Group AF
0.00027683 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88049232_88049233insGT , CM000674.2:g.88049232_88049233insGT | GRCh38 |
| NC_000012.11:g.88443009_88443010insGT , CM000674.1:g.88443009_88443010insGT | GRCh37 |
| NC_000012.10:g.86967140_86967141insGT | NCBI36 |
| NG_008417.1:g.97985_97986insCA | |
| NG_008417.2:g.97985_97986insCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.7401_7402insCA (CEP290) | ENSP00000308021.8:p.Glu2468GlnfsTer21 | |
| ENST00000356891.4:c.*810_*811insGT (RLIG1) MANE Select | ENSP00000349358.3:n.*810_*811insGT | |
| ENST00000547691.8:c.4361_4362insCA (CEP290) | ||
| ENST00000552810.6:c.7392_7393insCA (CEP290) MANE Select | ENSP00000448012.1:p.Glu2465GlnfsTer21 | |
| ENST00000671777.2:n.1171_1172insCA (CEP290) | ||
| ENST00000672414.2:c.*5398_*5399insCA (CEP290) | ENSP00000500729.1:n.*5398_*5399insCA | |
| ENST00000672647.1:n.5752_5753insCA (CEP290) | ||
| ENST00000673058.2:c.7269_7270insCA (CEP290) | ENSP00000500665.2:p.Glu2424GlnfsTer21 | |
| ENST00000674712.1:n.919_920insCA (CEP290) | ||
| ENST00000674889.1:n.4345_4346insCA (CEP290) | ||
| ENST00000674971.1:c.*349_*350insCA (CEP290) | ENSP00000502194.1:n.*349_*350insCA | |
| ENST00000675230.1:c.7371_7372insCA (CEP290) | ENSP00000502503.1:p.Glu2458GlnfsTer21 | |
| ENST00000675408.1:c.7227_7228insCA (CEP290) | ENSP00000502298.1:p.Glu2410GlnfsTer21 | |
| ENST00000675476.1:c.8253_8254insCA (CEP290) | ENSP00000502161.1:p.Glu2752GlnfsTer21 | |
| ENST00000675628.1:n.9374_9375insCA (CEP290) | ||
| ENST00000675794.1:c.*5563_*5564insCA (CEP290) | ENSP00000502841.1:n.*5563_*5564insCA | |
| ENST00000675833.1:c.8160_8161insCA (CEP290) | ENSP00000502559.1:p.Glu2721GlnfsTer21 | |
| ENST00000675894.1:n.3697_3698insCA (CEP290) | ||
| ENST00000676074.1:c.*349_*350insCA (CEP290) | ENSP00000502079.1:n.*349_*350insCA | |
| ENST00000676181.1:n.8075_8076insCA (CEP290) | ||
| ENST00000676190.1:n.3586_3587insCA (CEP290) | ||
| ENST00000676363.1:n.13118_13119insCA (CEP290) | ||
| ENST00000309041.11:c.7398_7399insCA (CEP290) | ENSP00000308021.7:p.Glu2467GlnfsTer21 | |
| ENST00000356891.3:c.*810_*811insGT (RLIG1) | ENSP00000349358.3:n.*810_*811insGT | |
| ENST00000547691.6:c.4572_4573insCA (CEP290) | ENSP00000446905.1:p.Glu1525GlnfsTer21 | |
| ENST00000550333.5:c.*1553_*1554insGT (RLIG1) | ENSP00000448194.1:n.*1553_*1554insGT | |
| ENST00000552810.5:c.7392_7393insCA (CEP290) | ENSP00000448012.1:p.Glu2465GlnfsTer21 | |
| NM_001009894.2:c.*810_*811insGT (RLIG1) | NP_001009894.2:n.*810_*811insGT | |
| NM_025114.3:c.7392_7393insCA (CEP290) | NP_079390.3:p.Glu2465GlnfsTer21 | |
| XM_011538756.1:c.8262_8263insCA (CEP290) | XP_011537058.1:p.Glu2755GlnfsTer21 | |
| XM_011538757.1:c.8262_8263insCA (CEP290) | XP_011537059.1:p.Glu2755GlnfsTer21 | |
| XM_011538758.1:c.8259_8260insCA (CEP290) | XP_011537060.1:p.Glu2754GlnfsTer21 | |
| XM_011538759.1:c.8253_8254insCA (CEP290) | XP_011537061.1:p.Glu2752GlnfsTer21 | |
| XM_011538760.1:c.8139_8140insCA (CEP290) | XP_011537062.1:p.Glu2714GlnfsTer21 | |
| XM_011538761.1:c.8097_8098insCA (CEP290) | XP_011537063.1:p.Glu2700GlnfsTer21 | |
| XM_011538762.1:c.7494_7495insCA (CEP290) | XP_011537064.1:p.Glu2499GlnfsTer21 | |
| XM_011538763.1:c.7401_7402insCA (CEP290) | XP_011537065.1:p.Glu2468GlnfsTer21 | |
| XM_011538766.1:c.6723_6724insCA (CEP290) | XP_011537068.1:p.Glu2242GlnfsTer21 | |
| XM_011538756.3:c.8262_8263insCA (CEP290) | XP_011537058.1:p.Glu2755GlnfsTer21 | |
| XM_011538757.3:c.8262_8263insCA (CEP290) | XP_011537059.1:p.Glu2755GlnfsTer21 | |
| XM_011538758.3:c.8259_8260insCA (CEP290) | XP_011537060.1:p.Glu2754GlnfsTer21 | |
| XM_011538759.2:c.8253_8254insCA (CEP290) | XP_011537061.1:p.Glu2752GlnfsTer21 | |
| XM_011538760.2:c.8139_8140insCA (CEP290) | XP_011537062.1:p.Glu2714GlnfsTer21 | |
| XM_011538761.2:c.8097_8098insCA (CEP290) | XP_011537063.1:p.Glu2700GlnfsTer21 | |
| XM_011538762.3:c.7494_7495insCA (CEP290) | XP_011537064.1:p.Glu2499GlnfsTer21 | |
| XM_011538763.3:c.7401_7402insCA (CEP290) | XP_011537065.1:p.Glu2468GlnfsTer21 | |
| XM_011538766.3:c.6723_6724insCA (CEP290) | XP_011537068.1:p.Glu2242GlnfsTer21 | |
| XM_017019980.2:c.8130_8131insCA (CEP290) | XP_016875469.1:p.Glu2711GlnfsTer21 | |
| XM_017019981.2:c.8088_8089insCA (CEP290) | XP_016875470.1:p.Glu2697GlnfsTer21 | |
| XM_017019983.2:c.7380_7381insCA (CEP290) | XP_016875472.1:p.Glu2461GlnfsTer21 | |
| NM_001009894.3:c.*810_*811insGT (RLIG1) MANE Select | NP_001009894.2:n.*810_*811insGT | |
| NM_025114.4:c.7392_7393insCA (CEP290) MANE Select | NP_079390.3:p.Glu2465GlnfsTer21 |