SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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.
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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53822454_53822469delinsGAGAAGGAGGAGAAAT , CM000672.2:g.53822454_53822469delinsGAGAAGGAGGAGAAAT | GRCh38 |
| NC_000010.10:g.55582214_55582229delinsGAGAAGGAGGAGAAAT , CM000672.1:g.55582214_55582229delinsGAGAAGGAGGAGAAAT | GRCh37 |
| NC_000010.9:g.55252220_55252235delinsGAGAAGGAGGAGAAAT | NCBI36 |
| NG_009191.2:g.983823_983838delinsATTTCTCCTCCTTCTC | |
| NG_009191.3:g.1811714_1811729delinsATTTCTCCTCCTTCTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613657.6:c.4409+2667_4409+2682delinsATTTCTCCTCCTTCTC | ENSP00000482794.1:n.4409+2667_4409+2682delinsATTTCTCCTCCTTCTC... | |
| ENST00000320301.11:c.5257_5272delinsATTTCTCCTCCTTCTC MANE Plus Clinical | ENSP00000322604.6:p.Ile1753= | |
| ENST00000395445.6:c.4388+4924_4388+4939delinsATTTCTCCTCCTTCTC | ENSP00000378832.2:n.4388+4924_4388+4939delinsATTTCTCCTCCTTCTC... | |
| ENST00000613657.5:c.4409+2667_4409+2682delinsATTTCTCCTCCTTCTC | ENSP00000482794.1:n.4409+2667_4409+2682delinsATTTCTCCTCCTTCTC... | |
| ENST00000642496.1:c.3227-2239_3227-2224delinsATTTCTCCTCCTTCTC | ||
| ENST00000644397.2:c.4368-2239_4368-2224delinsATTTCTCCTCCTTCTC MANE Select | ENSP00000495195.1:n.4368-2239_4368-2224delinsATTTCTCCTCCTTCTC... | |
| ENST00000320301.10:c.5257_5272delinsATTTCTCCTCCTTCTC | ENSP00000322604.6:p.Ile1753= | |
| ENST00000361849.7:c.5263_5278delinsATTTCTCCTCCTTCTC | ENSP00000354950.3:p.Ile1755= | |
| ENST00000373956.7:c.*3212_*3227delinsATTTCTCCTCCTTCTC | ENSP00000363067.4:n.*3212_*3227delinsATTTCTCCTCCTTCTC | |
| ENST00000373957.7:c.5278_5293delinsATTTCTCCTCCTTCTC | ENSP00000363068.4:p.Ile1760= | |
| ENST00000373965.6:c.4373+2667_4373+2682delinsATTTCTCCTCCTTCTC | ENSP00000363076.3:n.4373+2667_4373+2682delinsATTTCTCCTCCTTCTC... | |
| ENST00000395430.5:c.5248_5263delinsATTTCTCCTCCTTCTC | ENSP00000378818.1:p.Ile1750= | |
| ENST00000395432.6:c.5137_5152delinsATTTCTCCTCCTTCTC | ENSP00000378820.2:p.Ile1713= | |
| ENST00000395433.5:c.5188_5203delinsATTTCTCCTCCTTCTC | ENSP00000378821.1:p.Ile1730= | |
| ENST00000395438.5:c.4371+4923_4371+4938delinsATTTCTCCTCCTTCTC | ENSP00000378826.2:n.4371+4923_4371+4938delinsATTTCTCCTCCTTCTC... | |
| ENST00000395440.5:c.1306-12923_1306-12908delinsATTTCTCCTCCTTCTC | ENSP00000378827.1:n.1306-12923_1306-12908delinsATTTCTCCTCCTTC... | |
| ENST00000395442.5:c.1099-12923_1099-12908delinsATTTCTCCTCCTTCTC | ENSP00000378829.1:n.1099-12923_1099-12908delinsATTTCTCCTCCTTC... | |
| ENST00000395445.5:c.4388+4924_4388+4939delinsATTTCTCCTCCTTCTC | ENSP00000378832.2:n.4388+4924_4388+4939delinsATTTCTCCTCCTTCTC... | |
| ENST00000395446.5:c.2092-12923_2092-12908delinsATTTCTCCTCCTTCTC | ENSP00000378833.1:n.2092-12923_2092-12908delinsATTTCTCCTCCTTC... | |
| ENST00000409834.5:c.3206+2667_3206+2682delinsATTTCTCCTCCTTCTC | ENSP00000386693.1:n.3206+2667_3206+2682delinsATTTCTCCTCCTTCTC... | |
| ENST00000414367.5:c.*447+4924_*447+4939delinsATTTCTCCTCCTTCTC | ENSP00000412531.1:n.*447+4924_*447+4939delinsATTTCTCCTCCTTCTC... | |
| ENST00000414778.5:c.4370+4924_4370+4939delinsATTTCTCCTCCTTCTC | ENSP00000410304.2:n.4370+4924_4370+4939delinsATTTCTCCTCCTTCTC... | |
| ENST00000437009.5:c.5050_5065delinsATTTCTCCTCCTTCTC | ENSP00000412628.2:p.Ile1684= | |
| ENST00000448885.5:c.*3218_*3233delinsATTTCTCCTCCTTCTC | ENSP00000412320.1:n.*3218_*3233delinsATTTCTCCTCCTTCTC | |
| ENST00000463095.2:n.2276_2291delinsATTTCTCCTCCTTCTC | ||
| ENST00000495484.5:c.462-4456_462-4441delinsATTTCTCCTCCTTCTC | ENSP00000480780.1:n.462-4456_462-4441delinsATTTCTCCTCCTTCTC | |
| ENST00000612394.4:c.4406+4924_4406+4939delinsATTTCTCCTCCTTCTC | ENSP00000482921.1:n.4406+4924_4406+4939delinsATTTCTCCTCCTTCTC... | |
| ENST00000613657.4:c.4409+2667_4409+2682delinsATTTCTCCTCCTTCTC | ENSP00000482794.1:n.4409+2667_4409+2682delinsATTTCTCCTCCTTCTC... | |
| ENST00000614895.4:c.4385+4924_4385+4939delinsATTTCTCCTCCTTCTC | ENSP00000478512.1:n.4385+4924_4385+4939delinsATTTCTCCTCCTTCTC... | |
| ENST00000616114.4:c.4367+4924_4367+4939delinsATTTCTCCTCCTTCTC | ENSP00000483745.1:n.4367+4924_4367+4939delinsATTTCTCCTCCTTCTC... | |
| ENST00000617051.4:c.5284_5299delinsATTTCTCCTCCTTCTC | ENSP00000484703.1:p.Ile1762= | |
| ENST00000617271.4:c.4373+2667_4373+2682delinsATTTCTCCTCCTTCTC | ENSP00000478076.1:n.4373+2667_4373+2682delinsATTTCTCCTCCTTCTC... | |
| ENST00000618301.4:c.594-4456_594-4441delinsATTTCTCCTCCTTCTC | ENSP00000482780.1:n.594-4456_594-4441delinsATTTCTCCTCCTTCTC | |
| ENST00000621708.4:c.4388+2667_4388+2682delinsATTTCTCCTCCTTCTC | ENSP00000484454.1:n.4388+2667_4388+2682delinsATTTCTCCTCCTTCTC... | |
| ENST00000622048.4:c.5056_5071delinsATTTCTCCTCCTTCTC | ENSP00000482329.1:p.Ile1686= | |
| NM_001142763.1:c.5278_5293delinsATTTCTCCTCCTTCTC | NP_001136235.1:p.Ile1760= | |
| NM_001142764.1:c.5263_5278delinsATTTCTCCTCCTTCTC | NP_001136236.1:p.Ile1755= | |
| NM_001142765.1:c.5050_5065delinsATTTCTCCTCCTTCTC | NP_001136237.1:p.Ile1684= | |
| NM_001142766.1:c.5248_5263delinsATTTCTCCTCCTTCTC | NP_001136238.1:p.Ile1750= | |
| NM_001142767.1:c.5137_5152delinsATTTCTCCTCCTTCTC | NP_001136239.1:p.Ile1713= | |
| NM_001142768.1:c.5197_5212delinsATTTCTCCTCCTTCTC | NP_001136240.1:p.Ile1733= | |
| NM_001142769.1:c.4409+2667_4409+2682delinsATTTCTCCTCCTTCTC | NP_001136241.1:n.4409+2667_4409+2682delinsATTTCTCCTCCTTCTC | |
| NM_001142770.1:c.4373+2667_4373+2682delinsATTTCTCCTCCTTCTC | NP_001136242.1:n.4373+2667_4373+2682delinsATTTCTCCTCCTTCTC | |
| NM_001142771.1:c.4388+2667_4388+2682delinsATTTCTCCTCCTTCTC | NP_001136243.1:n.4388+2667_4388+2682delinsATTTCTCCTCCTTCTC | |
| NM_001142772.1:c.4373+2667_4373+2682delinsATTTCTCCTCCTTCTC | NP_001136244.1:n.4373+2667_4373+2682delinsATTTCTCCTCCTTCTC | |
| NM_001142773.1:c.5188_5203delinsATTTCTCCTCCTTCTC | NP_001136245.1:p.Ile1730= | |
| NM_033056.3:c.5257_5272delinsATTTCTCCTCCTTCTC | NP_149045.3:p.Ile1753= | |
| NM_001142769.2:c.4409+2667_4409+2682delinsATTTCTCCTCCTTCTC | NP_001136241.1:n.4409+2667_4409+2682delinsATTTCTCCTCCTTCTC | |
| NM_001142770.2:c.4373+2667_4373+2682delinsATTTCTCCTCCTTCTC | NP_001136242.1:n.4373+2667_4373+2682delinsATTTCTCCTCCTTCTC | |
| NM_001354404.1:c.5191_5206delinsATTTCTCCTCCTTCTC | NP_001341333.1:p.Ile1731= | |
| NM_001354411.1:c.4388+4924_4388+4939delinsATTTCTCCTCCTTCTC | NP_001341340.1:n.4388+4924_4388+4939delinsATTTCTCCTCCTTCTC | |
| NM_001354420.1:c.4367+4924_4367+4939delinsATTTCTCCTCCTTCTC | NP_001341349.1:n.4367+4924_4367+4939delinsATTTCTCCTCCTTCTC | |
| NM_001354429.1:c.4368-4456_4368-4441delinsATTTCTCCTCCTTCTC | NP_001341358.1:n.4368-4456_4368-4441delinsATTTCTCCTCCTTCTC | |
| XM_017016573.2:c.4388+2667_4388+2682delinsATTTCTCCTCCTTCTC | XP_016872062.1:n.4388+2667_4388+2682delinsATTTCTCCTCCTTCTC | |
| XR_001747192.2:n.6270_6285delinsATTTCTCCTCCTTCTC | ||
| XR_001747193.2:n.6261_6276delinsATTTCTCCTCCTTCTC | ||
| NM_001142763.2:c.5278_5293delinsATTTCTCCTCCTTCTC | NP_001136235.1:p.Ile1760= | |
| NM_001142764.2:c.5263_5278delinsATTTCTCCTCCTTCTC | NP_001136236.1:p.Ile1755= | |
| NM_001142765.2:c.5050_5065delinsATTTCTCCTCCTTCTC | NP_001136237.1:p.Ile1684= | |
| NM_001142766.2:c.5248_5263delinsATTTCTCCTCCTTCTC | NP_001136238.1:p.Ile1750= | |
| NM_001142768.2:c.5197_5212delinsATTTCTCCTCCTTCTC | NP_001136240.1:p.Ile1733= | |
| NM_001142769.3:c.4409+2667_4409+2682delinsATTTCTCCTCCTTCTC | NP_001136241.1:n.4409+2667_4409+2682delinsATTTCTCCTCCTTCTC | |
| NM_001142770.3:c.4373+2667_4373+2682delinsATTTCTCCTCCTTCTC | NP_001136242.1:n.4373+2667_4373+2682delinsATTTCTCCTCCTTCTC | |
| NM_001142771.2:c.4388+2667_4388+2682delinsATTTCTCCTCCTTCTC | NP_001136243.1:n.4388+2667_4388+2682delinsATTTCTCCTCCTTCTC | |
| NM_001142772.2:c.4373+2667_4373+2682delinsATTTCTCCTCCTTCTC | NP_001136244.1:n.4373+2667_4373+2682delinsATTTCTCCTCCTTCTC | |
| NM_001142773.2:c.5188_5203delinsATTTCTCCTCCTTCTC | NP_001136245.1:p.Ile1730= | |
| NM_001354411.2:c.4388+4924_4388+4939delinsATTTCTCCTCCTTCTC | NP_001341340.1:n.4388+4924_4388+4939delinsATTTCTCCTCCTTCTC | |
| NM_001354420.2:c.4367+4924_4367+4939delinsATTTCTCCTCCTTCTC | NP_001341349.1:n.4367+4924_4367+4939delinsATTTCTCCTCCTTCTC | |
| NM_001354429.2:c.4368-4456_4368-4441delinsATTTCTCCTCCTTCTC | NP_001341358.1:n.4368-4456_4368-4441delinsATTTCTCCTCCTTCTC | |
| NM_033056.4:c.5257_5272delinsATTTCTCCTCCTTCTC MANE Plus Clinical | NP_149045.3:p.Ile1753= | |
| NM_001142767.2:c.5137_5152delinsATTTCTCCTCCTTCTC | NP_001136239.1:p.Ile1713= | |
| NM_001354404.2:c.5191_5206delinsATTTCTCCTCCTTCTC | NP_001341333.1:p.Ile1731= | |
| NM_001384140.1:c.4368-2239_4368-2224delinsATTTCTCCTCCTTCTC MANE Select | NP_001371069.1:n.4368-2239_4368-2224delinsATTTCTCCTCCTTCTC |