SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58891364_58891399delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC , CM000682.2:g.58891364_58891399delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | GRCh38 |
| NC_000020.10:g.57466419_57466454delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC , CM000682.1:g.57466419_57466454delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | GRCh37 |
| NC_000020.9:g.56899814_56899849delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | NCBI36 |
| NG_016194.1:g.56625_56660delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | |
| NG_016194.2:g.56625_56660delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349036.9:c.2069-4248_2069-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000265621.6:n.2069-4248_2069-4213delinsGGGCGGCGGCGGGGGC... | |
| ENST00000419558.7:c.*43-4248_*43-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000416234.2:n.*43-4248_*43-4213delinsGGGCGGCGGCGGGGGCCC... | |
| ENST00000423897.7:c.2069-4248_2069-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000412356.2:n.2069-4248_2069-4213delinsGGGCGGCGGCGGGGGC... | |
| ENST00000453292.7:c.781-4248_781-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000392000.2:n.781-4248_781-4213delinsGGGCGGCGGCGGGGGCCC... | |
| ENST00000462499.6:c.-38-4248_-38-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000499758.2:n.-38-4248_-38-4213delinsGGGCGGCGGCGGGGGCCC... | |
| ENST00000464624.7:c.2160-4248_2160-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000499607.2:n.2160-4248_2160-4213delinsGGGCGGCGGCGGGGGC... | |
| ENST00000464788.6:c.-39+2151_-39+2186delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000499239.2:n.-39+2151_-39+2186delinsGGGCGGCGGCGGGGGCCC... | |
| ENST00000467227.6:c.-38-4248_-38-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000499681.2:n.-38-4248_-38-4213delinsGGGCGGCGGCGGGGGCCC... | |
| ENST00000467321.6:c.-39+2318_-39+2353delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000499523.2:n.-39+2318_-39+2353delinsGGGCGGCGGCGGGGGCCC... | |
| ENST00000469431.6:c.-39+1958_-39+1993delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000499654.2:n.-39+1958_-39+1993delinsGGGCGGCGGCGGGGGCCC... | |
| ENST00000470512.6:c.-39+2011_-39+2046delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000499552.2:n.-39+2011_-39+2046delinsGGGCGGCGGCGGGGGCCC... | |
| ENST00000472183.6:c.-38-4248_-38-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000499673.2:n.-38-4248_-38-4213delinsGGGCGGCGGCGGGGGCCC... | |
| ENST00000478585.6:c.-39+2011_-39+2046delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000499762.2:n.-39+2011_-39+2046delinsGGGCGGCGGCGGGGGCCC... | |
| ENST00000480232.6:c.-39+1815_-39+1850delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000499545.2:n.-39+1815_-39+1850delinsGGGCGGCGGCGGGGGCCC... | |
| ENST00000481039.6:c.-39+2456_-39+2491delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000499767.2:n.-39+2456_-39+2491delinsGGGCGGCGGCGGGGGCCC... | |
| ENST00000482112.6:c.-38-4248_-38-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000499794.2:n.-38-4248_-38-4213delinsGGGCGGCGGCGGGGGCCC... | |
| ENST00000485673.6:c.-39+1815_-39+1850delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000499334.2:n.-39+1815_-39+1850delinsGGGCGGCGGCGGGGGCCC... | |
| ENST00000488546.6:c.-39+2546_-39+2581delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000499332.2:n.-39+2546_-39+2581delinsGGGCGGCGGCGGGGGCCC... | |
| ENST00000604005.6:c.-39+2032_-39+2067delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000474219.2:n.-39+2032_-39+2067delinsGGGCGGCGGCGGGGGCCC... | |
| ENST00000663479.2:c.-38-4248_-38-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000499353.2:n.-38-4248_-38-4213delinsGGGCGGCGGCGGGGGCCC... | |
| ENST00000667293.2:c.-39+2460_-39+2495delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000499293.2:n.-39+2460_-39+2495delinsGGGCGGCGGCGGGGGCCC... | |
| ENST00000676826.2:c.2069-4248_2069-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000504675.2:n.2069-4248_2069-4213delinsGGGCGGCGGCGGGGGC... | |
| ENST00000683015.1:c.909+575_909+610delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000506815.1:n.909+575_909+610delinsGGGCGGCGGCGGGGGCCCGG... | |
| ENST00000306090.12:c.44-4248_44-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000304472.12:n.44-4248_44-4213delinsGGGCGGCGGCGGGGGCCCG... | |
| ENST00000349036.8:c.2069-4248_2069-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000265621.5:n.2069-4248_2069-4213delinsGGGCGGCGGCGGGGGC... | |
| ENST00000371100.9:c.2069-4248_2069-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC MANE Plus Clinical | ENSP00000360141.3:n.2069-4248_2069-4213delinsGGGCGGCGGCGGGGGC... | |
| ENST00000419558.6:c.*43-4248_*43-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000416234.2:n.*43-4248_*43-4213delinsGGGCGGCGGCGGGGGCCC... | |
| ENST00000423897.6:c.2069-4248_2069-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000412356.2:n.2069-4248_2069-4213delinsGGGCGGCGGCGGGGGC... | |
| ENST00000453292.6:c.*43-4248_*43-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000392000.2:n.*43-4248_*43-4213delinsGGGCGGCGGCGGGGGCCC... | |
| ENST00000461152.6:c.909+575_909+610delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000499274.1:n.909+575_909+610delinsGGGCGGCGGCGGGGGCCCGG... | |
| ENST00000481768.6:c.2227-4248_2227-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000499644.2:n.2227-4248_2227-4213delinsGGGCGGCGGCGGGGGC... | |
| ENST00000490374.6:n.223-4248_223-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ||
| ENST00000657090.1:c.-38-4248_-38-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000499380.1:n.-38-4248_-38-4213delinsGGGCGGCGGCGGGGGCCC... | |
| ENST00000663479.1:c.-38-4248_-38-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000499353.1:n.-38-4248_-38-4213delinsGGGCGGCGGCGGGGGCCC... | |
| ENST00000667293.1:c.11-4248_11-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000499293.1:n.11-4248_11-4213delinsGGGCGGCGGCGGGGGCCCGG... | |
| ENST00000676826.1:c.2069-4248_2069-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000504675.1:n.2069-4248_2069-4213delinsGGGCGGCGGCGGGGGC... | |
| ENST00000265620.11:c.-363_-328delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000265620.7:n.-363_-328delinsGGGCGGCGGCGGGGGCCCGGCCGAGG... | |
| ENST00000313949.11:c.*43-4248_*43-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000323571.7:n.*43-4248_*43-4213delinsGGGCGGCGGCGGGGGCCC... | |
| ENST00000349036.7:c.188-4248_188-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000265621.4:n.188-4248_188-4213delinsGGGCGGCGGCGGGGGCCC... | |
| ENST00000354359.11:c.-363_-328delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000346328.7:n.-363_-328delinsGGGCGGCGGCGGGGGCCCGGCCGAGG... | |
| ENST00000371075.7:c.*43-4248_*43-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC MANE Plus Clinical | ENSP00000360115.3:n.*43-4248_*43-4213delinsGGGCGGCGGCGGGGGCCC... | |
| ENST00000371085.7:c.-363_-328delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000360126.3:n.-363_-328delinsGGGCGGCGGCGGGGGCCCGGCCGAGG... | |
| ENST00000371095.7:c.-363_-328delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000360136.3:n.-363_-328delinsGGGCGGCGGCGGGGGCCCGGCCGAGG... | |
| ENST00000371098.6:c.*43-4248_*43-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000360139.2:n.*43-4248_*43-4213delinsGGGCGGCGGCGGGGGCCC... | |
| ENST00000371100.8:c.2069-4248_2069-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000360141.3:n.2069-4248_2069-4213delinsGGGCGGCGGCGGGGGC... | |
| ENST00000371102.8:c.2069-4248_2069-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000360143.4:n.2069-4248_2069-4213delinsGGGCGGCGGCGGGGGC... | |
| ENST00000419558.5:c.384-4248_384-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ||
| ENST00000423897.5:c.157-4248_157-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ||
| ENST00000450130.5:c.228-4248_228-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ||
| ENST00000453292.5:c.544-4248_544-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000392000.1:n.544-4248_544-4213delinsGGGCGGCGGCGGGGGCCC... | |
| ENST00000461152.5:n.147+575_147+610delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ||
| ENST00000462499.5:n.259-4248_259-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ||
| ENST00000464624.6:n.2072-218_2072-183delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ||
| ENST00000464788.5:n.67+2151_67+2186delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ||
| ENST00000464960.5:n.406+2546_406+2581delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ||
| ENST00000467227.5:n.123-4248_123-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ||
| ENST00000467321.5:n.154+2318_154+2353delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ||
| ENST00000468895.5:n.50+2456_50+2491delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ||
| ENST00000469431.5:n.256+1958_256+1993delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ||
| ENST00000470512.5:n.210+2011_210+2046delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ||
| ENST00000472183.5:n.392-4248_392-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ||
| ENST00000477931.5:n.254+2011_254+2046delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ||
| ENST00000478585.5:n.194+2011_194+2046delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ||
| ENST00000480232.5:n.155+1815_155+1850delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ||
| ENST00000480975.5:n.183+2011_183+2046delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ||
| ENST00000481039.5:n.56+2460_56+2495delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ||
| ENST00000481768.5:n.1324-4248_1324-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ||
| ENST00000482112.5:n.259-4248_259-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ||
| ENST00000484504.5:n.127+2011_127+2046delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ||
| ENST00000485673.5:n.426+1815_426+1850delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ||
| ENST00000488546.5:n.40+2546_40+2581delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ||
| ENST00000490374.5:n.255-4248_255-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ||
| ENST00000491348.5:n.534-4248_534-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ||
| ENST00000493744.5:n.233-4248_233-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ||
| ENST00000604005.5:c.-39+2032_-39+2067delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ENSP00000474219.1:n.-39+2032_-39+2067delinsGGGCGGCGGCGGGGGCCC... | |
| NM_000516.5:c.-363_-328delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | NP_000507.1:n.-363_-328delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAA... | |
| NM_001077488.3:c.-363_-328delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | NP_001070956.1:n.-363_-328delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAA... | |
| NM_001077489.3:c.-363_-328delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | NP_001070957.1:n.-363_-328delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAA... | |
| NM_001077490.1:c.*1-4248_*1-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | NP_001070958.1:n.*1-4248_*1-4213delinsGGGCGGCGGCGGGGGCCCGGCCG... | |
| NM_001077490.2:c.*1-4248_*1-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | NP_001070958.1:n.*1-4248_*1-4213delinsGGGCGGCGGCGGGGGCCCGGCCG... | |
| NM_001309840.1:c.-39+2011_-39+2046delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | NP_001296769.1:n.-39+2011_-39+2046delinsGGGCGGCGGCGGGGGCCCGGC... | |
| NM_001309842.1:c.-363_-328delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | NP_001296771.1:n.-363_-328delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAA... | |
| NM_001309861.1:c.-38-4248_-38-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | NP_001296790.1:n.-38-4248_-38-4213delinsGGGCGGCGGCGGGGGCCCGGC... | |
| NM_001309883.1:c.*159-4248_*159-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | NP_001296812.1:n.*159-4248_*159-4213delinsGGGCGGCGGCGGGGGCCCG... | |
| NM_016592.2:c.*43-4248_*43-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | NP_057676.1:n.*43-4248_*43-4213delinsGGGCGGCGGCGGGGGCCCGGCCGA... | |
| NM_016592.3:c.*43-4248_*43-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | NP_057676.1:n.*43-4248_*43-4213delinsGGGCGGCGGCGGGGGCCCGGCCGA... | |
| NM_080425.2:c.2069-4248_2069-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | NP_536350.2:n.2069-4248_2069-4213delinsGGGCGGCGGCGGGGGCCCGGCC... | |
| NM_080425.3:c.2069-4248_2069-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | NP_536350.2:n.2069-4248_2069-4213delinsGGGCGGCGGCGGGGGCCCGGCC... | |
| NM_080426.3:c.-363_-328delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | NP_536351.1:n.-363_-328delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAA... | |
| NR_003259.1:c.-4294967067+2011_-4294967067+2046delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ||
| NR_132273.1:n.406+2546_406+2581delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ||
| XM_017027812.2:c.2069-4248_2069-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | XP_016883301.1:n.2069-4248_2069-4213delinsGGGCGGCGGCGGGGGCCCG... | |
| XM_017027813.2:c.2069-4248_2069-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | XP_016883302.1:n.2069-4248_2069-4213delinsGGGCGGCGGCGGGGGCCCG... | |
| XM_017027814.2:c.2069-4248_2069-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | XP_016883303.1:n.2069-4248_2069-4213delinsGGGCGGCGGCGGGGGCCCG... | |
| XM_017027815.1:c.44-4248_44-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | XP_016883304.1:n.44-4248_44-4213delinsGGGCGGCGGCGGGGGCCCGGCCG... | |
| XM_017027816.1:c.-667_-632delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | XP_016883305.1:n.-667_-632delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAA... | |
| XM_017027817.1:c.-39+2011_-39+2046delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | XP_016883306.1:n.-39+2011_-39+2046delinsGGGCGGCGGCGGGGGCCCGGC... | |
| XM_017027819.1:c.-39+2032_-39+2067delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | XP_016883308.1:n.-39+2032_-39+2067delinsGGGCGGCGGCGGGGGCCCGGC... | |
| XM_017027821.1:c.*43-4248_*43-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | XP_016883310.1:n.*43-4248_*43-4213delinsGGGCGGCGGCGGGGGCCCGGC... | |
| XM_017027822.1:c.*43-4248_*43-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | XP_016883311.1:n.*43-4248_*43-4213delinsGGGCGGCGGCGGGGGCCCGGC... | |
| XM_024451872.1:c.44-4248_44-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | XP_024307640.1:n.44-4248_44-4213delinsGGGCGGCGGCGGGGGCCCGGCCG... | |
| XM_024451875.1:c.-39+2032_-39+2067delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | XP_024307643.1:n.-39+2032_-39+2067delinsGGGCGGCGGCGGGGGCCCGGC... | |
| XR_002958471.1:n.263_298delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | ||
| NM_001309840.2:c.-39+2011_-39+2046delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | NP_001296769.1:n.-39+2011_-39+2046delinsGGGCGGCGGCGGGGGCCCGGC... | |
| NM_001309861.2:c.-38-4248_-38-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | NP_001296790.1:n.-38-4248_-38-4213delinsGGGCGGCGGCGGGGGCCCGGC... | |
| NM_016592.4:c.*43-4248_*43-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | NP_057676.1:n.*43-4248_*43-4213delinsGGGCGGCGGCGGGGGCCCGGCCGA... | |
| NM_001077490.3:c.*1-4248_*1-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC | NP_001070958.1:n.*1-4248_*1-4213delinsGGGCGGCGGCGGGGGCCCGGCCG... | |
| NM_016592.5:c.*43-4248_*43-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC MANE Plus Clinical | NP_057676.1:n.*43-4248_*43-4213delinsGGGCGGCGGCGGGGGCCCGGCCGA... | |
| NM_080425.4:c.2069-4248_2069-4213delinsGGGCGGCGGCGGGGGCCCGGCCGAGGCAATAAGAGC MANE Plus Clinical | NP_536350.2:n.2069-4248_2069-4213delinsGGGCGGCGGCGGGGGCCCGGCC... |