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.53822445_53822472delinsCAGGAGGAGGAGAAGGAGGAGAAATAGG , CM000672.2:g.53822445_53822472delinsCAGGAGGAGGAGAAGGAGGAGAAATAGG | GRCh38 |
| NC_000010.10:g.55582205_55582232delinsCAGGAGGAGGAGAAGGAGGAGAAATAGG , CM000672.1:g.55582205_55582232delinsCAGGAGGAGGAGAAGGAGGAGAAATAGG | GRCh37 |
| NC_000010.9:g.55252211_55252238delinsCAGGAGGAGGAGAAGGAGGAGAAATAGG | NCBI36 |
| NG_009191.2:g.983820_983847delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | |
| NG_009191.3:g.1811711_1811738delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613657.6:c.4409+2664_4409+2691delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ENSP00000482794.1:n.4409+2664_4409+2691delinsCCTATTTCTCCTCCTT... | |
| ENST00000320301.11:c.5254_5281delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG MANE Plus Clinical | ENSP00000322604.6:p.Pro1752= | |
| ENST00000395445.6:c.4388+4921_4388+4948delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ENSP00000378832.2:n.4388+4921_4388+4948delinsCCTATTTCTCCTCCTT... | |
| ENST00000613657.5:c.4409+2664_4409+2691delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ENSP00000482794.1:n.4409+2664_4409+2691delinsCCTATTTCTCCTCCTT... | |
| ENST00000642496.1:c.3227-2242_3227-2215delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ||
| ENST00000644397.2:c.4368-2242_4368-2215delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG MANE Select | ENSP00000495195.1:n.4368-2242_4368-2215delinsCCTATTTCTCCTCCTT... | |
| ENST00000320301.10:c.5254_5281delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ENSP00000322604.6:p.Pro1752= | |
| ENST00000361849.7:c.5260_5287delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ENSP00000354950.3:p.Pro1754= | |
| ENST00000373956.7:c.*3209_*3236delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ENSP00000363067.4:n.*3209_*3236delinsCCTATTTCTCCTCCTTCTCCTCCT... | |
| ENST00000373957.7:c.5275_5302delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ENSP00000363068.4:p.Pro1759= | |
| ENST00000373965.6:c.4373+2664_4373+2691delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ENSP00000363076.3:n.4373+2664_4373+2691delinsCCTATTTCTCCTCCTT... | |
| ENST00000395430.5:c.5245_5272delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ENSP00000378818.1:p.Pro1749= | |
| ENST00000395432.6:c.5134_5161delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ENSP00000378820.2:p.Pro1712= | |
| ENST00000395433.5:c.5185_5212delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ENSP00000378821.1:p.Pro1729= | |
| ENST00000395438.5:c.4371+4920_4371+4947delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ENSP00000378826.2:n.4371+4920_4371+4947delinsCCTATTTCTCCTCCTT... | |
| ENST00000395440.5:c.1306-12926_1306-12899delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ENSP00000378827.1:n.1306-12926_1306-12899delinsCCTATTTCTCCTCC... | |
| ENST00000395442.5:c.1099-12926_1099-12899delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ENSP00000378829.1:n.1099-12926_1099-12899delinsCCTATTTCTCCTCC... | |
| ENST00000395445.5:c.4388+4921_4388+4948delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ENSP00000378832.2:n.4388+4921_4388+4948delinsCCTATTTCTCCTCCTT... | |
| ENST00000395446.5:c.2092-12926_2092-12899delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ENSP00000378833.1:n.2092-12926_2092-12899delinsCCTATTTCTCCTCC... | |
| ENST00000409834.5:c.3206+2664_3206+2691delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ENSP00000386693.1:n.3206+2664_3206+2691delinsCCTATTTCTCCTCCTT... | |
| ENST00000414367.5:c.*447+4921_*447+4948delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ENSP00000412531.1:n.*447+4921_*447+4948delinsCCTATTTCTCCTCCTT... | |
| ENST00000414778.5:c.4370+4921_4370+4948delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ENSP00000410304.2:n.4370+4921_4370+4948delinsCCTATTTCTCCTCCTT... | |
| ENST00000437009.5:c.5047_5074delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ENSP00000412628.2:p.Pro1683= | |
| ENST00000448885.5:c.*3215_*3242delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ENSP00000412320.1:n.*3215_*3242delinsCCTATTTCTCCTCCTTCTCCTCCT... | |
| ENST00000463095.2:n.2273_2300delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ||
| ENST00000495484.5:c.462-4459_462-4432delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ENSP00000480780.1:n.462-4459_462-4432delinsCCTATTTCTCCTCCTTCT... | |
| ENST00000612394.4:c.4406+4921_4406+4948delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ENSP00000482921.1:n.4406+4921_4406+4948delinsCCTATTTCTCCTCCTT... | |
| ENST00000613657.4:c.4409+2664_4409+2691delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ENSP00000482794.1:n.4409+2664_4409+2691delinsCCTATTTCTCCTCCTT... | |
| ENST00000614895.4:c.4385+4921_4385+4948delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ENSP00000478512.1:n.4385+4921_4385+4948delinsCCTATTTCTCCTCCTT... | |
| ENST00000616114.4:c.4367+4921_4367+4948delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ENSP00000483745.1:n.4367+4921_4367+4948delinsCCTATTTCTCCTCCTT... | |
| ENST00000617051.4:c.5281_5308delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ENSP00000484703.1:p.Pro1761= | |
| ENST00000617271.4:c.4373+2664_4373+2691delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ENSP00000478076.1:n.4373+2664_4373+2691delinsCCTATTTCTCCTCCTT... | |
| ENST00000618301.4:c.594-4459_594-4432delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ENSP00000482780.1:n.594-4459_594-4432delinsCCTATTTCTCCTCCTTCT... | |
| ENST00000621708.4:c.4388+2664_4388+2691delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ENSP00000484454.1:n.4388+2664_4388+2691delinsCCTATTTCTCCTCCTT... | |
| ENST00000622048.4:c.5053_5080delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ENSP00000482329.1:p.Pro1685= | |
| NM_001142763.1:c.5275_5302delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001136235.1:p.Pro1759= | |
| NM_001142764.1:c.5260_5287delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001136236.1:p.Pro1754= | |
| NM_001142765.1:c.5047_5074delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001136237.1:p.Pro1683= | |
| NM_001142766.1:c.5245_5272delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001136238.1:p.Pro1749= | |
| NM_001142767.1:c.5134_5161delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001136239.1:p.Pro1712= | |
| NM_001142768.1:c.5194_5221delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001136240.1:p.Pro1732= | |
| NM_001142769.1:c.4409+2664_4409+2691delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001136241.1:n.4409+2664_4409+2691delinsCCTATTTCTCCTCCTTCTC... | |
| NM_001142770.1:c.4373+2664_4373+2691delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001136242.1:n.4373+2664_4373+2691delinsCCTATTTCTCCTCCTTCTC... | |
| NM_001142771.1:c.4388+2664_4388+2691delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001136243.1:n.4388+2664_4388+2691delinsCCTATTTCTCCTCCTTCTC... | |
| NM_001142772.1:c.4373+2664_4373+2691delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001136244.1:n.4373+2664_4373+2691delinsCCTATTTCTCCTCCTTCTC... | |
| NM_001142773.1:c.5185_5212delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001136245.1:p.Pro1729= | |
| NM_033056.3:c.5254_5281delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_149045.3:p.Pro1752= | |
| NM_001142769.2:c.4409+2664_4409+2691delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001136241.1:n.4409+2664_4409+2691delinsCCTATTTCTCCTCCTTCTC... | |
| NM_001142770.2:c.4373+2664_4373+2691delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001136242.1:n.4373+2664_4373+2691delinsCCTATTTCTCCTCCTTCTC... | |
| NM_001354404.1:c.5188_5215delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001341333.1:p.Pro1730= | |
| NM_001354411.1:c.4388+4921_4388+4948delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001341340.1:n.4388+4921_4388+4948delinsCCTATTTCTCCTCCTTCTC... | |
| NM_001354420.1:c.4367+4921_4367+4948delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001341349.1:n.4367+4921_4367+4948delinsCCTATTTCTCCTCCTTCTC... | |
| NM_001354429.1:c.4368-4459_4368-4432delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001341358.1:n.4368-4459_4368-4432delinsCCTATTTCTCCTCCTTCTC... | |
| XM_017016573.2:c.4388+2664_4388+2691delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | XP_016872062.1:n.4388+2664_4388+2691delinsCCTATTTCTCCTCCTTCTC... | |
| XR_001747192.2:n.6267_6294delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ||
| XR_001747193.2:n.6258_6285delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | ||
| NM_001142763.2:c.5275_5302delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001136235.1:p.Pro1759= | |
| NM_001142764.2:c.5260_5287delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001136236.1:p.Pro1754= | |
| NM_001142765.2:c.5047_5074delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001136237.1:p.Pro1683= | |
| NM_001142766.2:c.5245_5272delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001136238.1:p.Pro1749= | |
| NM_001142768.2:c.5194_5221delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001136240.1:p.Pro1732= | |
| NM_001142769.3:c.4409+2664_4409+2691delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001136241.1:n.4409+2664_4409+2691delinsCCTATTTCTCCTCCTTCTC... | |
| NM_001142770.3:c.4373+2664_4373+2691delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001136242.1:n.4373+2664_4373+2691delinsCCTATTTCTCCTCCTTCTC... | |
| NM_001142771.2:c.4388+2664_4388+2691delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001136243.1:n.4388+2664_4388+2691delinsCCTATTTCTCCTCCTTCTC... | |
| NM_001142772.2:c.4373+2664_4373+2691delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001136244.1:n.4373+2664_4373+2691delinsCCTATTTCTCCTCCTTCTC... | |
| NM_001142773.2:c.5185_5212delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001136245.1:p.Pro1729= | |
| NM_001354411.2:c.4388+4921_4388+4948delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001341340.1:n.4388+4921_4388+4948delinsCCTATTTCTCCTCCTTCTC... | |
| NM_001354420.2:c.4367+4921_4367+4948delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001341349.1:n.4367+4921_4367+4948delinsCCTATTTCTCCTCCTTCTC... | |
| NM_001354429.2:c.4368-4459_4368-4432delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001341358.1:n.4368-4459_4368-4432delinsCCTATTTCTCCTCCTTCTC... | |
| NM_033056.4:c.5254_5281delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG MANE Plus Clinical | NP_149045.3:p.Pro1752= | |
| NM_001142767.2:c.5134_5161delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001136239.1:p.Pro1712= | |
| NM_001354404.2:c.5188_5215delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG | NP_001341333.1:p.Pro1730= | |
| NM_001384140.1:c.4368-2242_4368-2215delinsCCTATTTCTCCTCCTTCTCCTCCTCCTG MANE Select | NP_001371069.1:n.4368-2242_4368-2215delinsCCTATTTCTCCTCCTTCTC... |