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.53822230_53822254delinsTGAAGGAGGTGGAGGGCAAGGAATA , CM000672.2:g.53822230_53822254delinsTGAAGGAGGTGGAGGGCAAGGAATA | GRCh38 |
| NC_000010.10:g.55581990_55582014delinsTGAAGGAGGTGGAGGGCAAGGAATA , CM000672.1:g.55581990_55582014delinsTGAAGGAGGTGGAGGGCAAGGAATA | GRCh37 |
| NC_000010.9:g.55251996_55252020delinsTGAAGGAGGTGGAGGGCAAGGAATA | NCBI36 |
| NG_009191.2:g.984038_984062delinsTATTCCTTGCCCTCCACCTCCTTCA | |
| NG_009191.3:g.1811929_1811953delinsTATTCCTTGCCCTCCACCTCCTTCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613657.6:c.4409+2882_4409+2906delinsTATTCCTTGCCCTCCACCTCCTTCA | ENSP00000482794.1:n.4409+2882_4409+2906delinsTATTCCTTGCCCTCCA... | |
| ENST00000320301.11:c.5472_5496delinsTATTCCTTGCCCTCCACCTCCTTCA MANE Plus Clinical | ENSP00000322604.6:p.Ser1824= | |
| ENST00000395445.6:c.4388+5139_4388+5163delinsTATTCCTTGCCCTCCACCTCCTTCA | ENSP00000378832.2:n.4388+5139_4388+5163delinsTATTCCTTGCCCTCCA... | |
| ENST00000613657.5:c.4409+2882_4409+2906delinsTATTCCTTGCCCTCCACCTCCTTCA | ENSP00000482794.1:n.4409+2882_4409+2906delinsTATTCCTTGCCCTCCA... | |
| ENST00000642496.1:c.3227-2024_3227-2000delinsTATTCCTTGCCCTCCACCTCCTTCA | ||
| ENST00000644397.2:c.4368-2024_4368-2000delinsTATTCCTTGCCCTCCACCTCCTTCA MANE Select | ENSP00000495195.1:n.4368-2024_4368-2000delinsTATTCCTTGCCCTCCA... | |
| ENST00000320301.10:c.5472_5496delinsTATTCCTTGCCCTCCACCTCCTTCA | ENSP00000322604.6:p.Ser1824= | |
| ENST00000361849.7:c.5478_5502delinsTATTCCTTGCCCTCCACCTCCTTCA | ENSP00000354950.3:p.Ser1826= | |
| ENST00000373956.7:c.*3427_*3451delinsTATTCCTTGCCCTCCACCTCCTTCA | ENSP00000363067.4:n.*3427_*3451delinsTATTCCTTGCCCTCCACCTCCTTC... | |
| ENST00000373957.7:c.5493_5517delinsTATTCCTTGCCCTCCACCTCCTTCA | ENSP00000363068.4:p.Ser1831= | |
| ENST00000373965.6:c.4373+2882_4373+2906delinsTATTCCTTGCCCTCCACCTCCTTCA | ENSP00000363076.3:n.4373+2882_4373+2906delinsTATTCCTTGCCCTCCA... | |
| ENST00000395430.5:c.5463_5487delinsTATTCCTTGCCCTCCACCTCCTTCA | ENSP00000378818.1:p.Ser1821= | |
| ENST00000395432.6:c.5352_5376delinsTATTCCTTGCCCTCCACCTCCTTCA | ENSP00000378820.2:p.Ser1784= | |
| ENST00000395433.5:c.5403_5427delinsTATTCCTTGCCCTCCACCTCCTTCA | ENSP00000378821.1:p.Ser1801= | |
| ENST00000395438.5:c.4371+5138_4371+5162delinsTATTCCTTGCCCTCCACCTCCTTCA | ENSP00000378826.2:n.4371+5138_4371+5162delinsTATTCCTTGCCCTCCA... | |
| ENST00000395440.5:c.1306-12708_1306-12684delinsTATTCCTTGCCCTCCACCTCCTTCA | ENSP00000378827.1:n.1306-12708_1306-12684delinsTATTCCTTGCCCTC... | |
| ENST00000395442.5:c.1099-12708_1099-12684delinsTATTCCTTGCCCTCCACCTCCTTCA | ENSP00000378829.1:n.1099-12708_1099-12684delinsTATTCCTTGCCCTC... | |
| ENST00000395445.5:c.4388+5139_4388+5163delinsTATTCCTTGCCCTCCACCTCCTTCA | ENSP00000378832.2:n.4388+5139_4388+5163delinsTATTCCTTGCCCTCCA... | |
| ENST00000395446.5:c.2092-12708_2092-12684delinsTATTCCTTGCCCTCCACCTCCTTCA | ENSP00000378833.1:n.2092-12708_2092-12684delinsTATTCCTTGCCCTC... | |
| ENST00000409834.5:c.3206+2882_3206+2906delinsTATTCCTTGCCCTCCACCTCCTTCA | ENSP00000386693.1:n.3206+2882_3206+2906delinsTATTCCTTGCCCTCCA... | |
| ENST00000414367.5:c.*447+5139_*447+5163delinsTATTCCTTGCCCTCCACCTCCTTCA | ENSP00000412531.1:n.*447+5139_*447+5163delinsTATTCCTTGCCCTCCA... | |
| ENST00000414778.5:c.4370+5139_4370+5163delinsTATTCCTTGCCCTCCACCTCCTTCA | ENSP00000410304.2:n.4370+5139_4370+5163delinsTATTCCTTGCCCTCCA... | |
| ENST00000437009.5:c.5265_5289delinsTATTCCTTGCCCTCCACCTCCTTCA | ENSP00000412628.2:p.Ser1755= | |
| ENST00000448885.5:c.*3433_*3457delinsTATTCCTTGCCCTCCACCTCCTTCA | ENSP00000412320.1:n.*3433_*3457delinsTATTCCTTGCCCTCCACCTCCTTC... | |
| ENST00000463095.2:n.2491_2515delinsTATTCCTTGCCCTCCACCTCCTTCA | ||
| ENST00000495484.5:c.462-4241_462-4217delinsTATTCCTTGCCCTCCACCTCCTTCA | ENSP00000480780.1:n.462-4241_462-4217delinsTATTCCTTGCCCTCCACC... | |
| ENST00000612394.4:c.4406+5139_4406+5163delinsTATTCCTTGCCCTCCACCTCCTTCA | ENSP00000482921.1:n.4406+5139_4406+5163delinsTATTCCTTGCCCTCCA... | |
| ENST00000613657.4:c.4409+2882_4409+2906delinsTATTCCTTGCCCTCCACCTCCTTCA | ENSP00000482794.1:n.4409+2882_4409+2906delinsTATTCCTTGCCCTCCA... | |
| ENST00000614895.4:c.4385+5139_4385+5163delinsTATTCCTTGCCCTCCACCTCCTTCA | ENSP00000478512.1:n.4385+5139_4385+5163delinsTATTCCTTGCCCTCCA... | |
| ENST00000616114.4:c.4367+5139_4367+5163delinsTATTCCTTGCCCTCCACCTCCTTCA | ENSP00000483745.1:n.4367+5139_4367+5163delinsTATTCCTTGCCCTCCA... | |
| ENST00000617051.4:c.5499_5523delinsTATTCCTTGCCCTCCACCTCCTTCA | ENSP00000484703.1:p.Ser1833= | |
| ENST00000617271.4:c.4373+2882_4373+2906delinsTATTCCTTGCCCTCCACCTCCTTCA | ENSP00000478076.1:n.4373+2882_4373+2906delinsTATTCCTTGCCCTCCA... | |
| ENST00000618301.4:c.594-4241_594-4217delinsTATTCCTTGCCCTCCACCTCCTTCA | ENSP00000482780.1:n.594-4241_594-4217delinsTATTCCTTGCCCTCCACC... | |
| ENST00000621708.4:c.4388+2882_4388+2906delinsTATTCCTTGCCCTCCACCTCCTTCA | ENSP00000484454.1:n.4388+2882_4388+2906delinsTATTCCTTGCCCTCCA... | |
| ENST00000622048.4:c.5271_5295delinsTATTCCTTGCCCTCCACCTCCTTCA | ENSP00000482329.1:p.Ser1757= | |
| NM_001142763.1:c.5493_5517delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001136235.1:p.Ser1831= | |
| NM_001142764.1:c.5478_5502delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001136236.1:p.Ser1826= | |
| NM_001142765.1:c.5265_5289delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001136237.1:p.Ser1755= | |
| NM_001142766.1:c.5463_5487delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001136238.1:p.Ser1821= | |
| NM_001142767.1:c.5352_5376delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001136239.1:p.Ser1784= | |
| NM_001142768.1:c.5412_5436delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001136240.1:p.Ser1804= | |
| NM_001142769.1:c.4409+2882_4409+2906delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001136241.1:n.4409+2882_4409+2906delinsTATTCCTTGCCCTCCACCT... | |
| NM_001142770.1:c.4373+2882_4373+2906delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001136242.1:n.4373+2882_4373+2906delinsTATTCCTTGCCCTCCACCT... | |
| NM_001142771.1:c.4388+2882_4388+2906delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001136243.1:n.4388+2882_4388+2906delinsTATTCCTTGCCCTCCACCT... | |
| NM_001142772.1:c.4373+2882_4373+2906delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001136244.1:n.4373+2882_4373+2906delinsTATTCCTTGCCCTCCACCT... | |
| NM_001142773.1:c.5403_5427delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001136245.1:p.Ser1801= | |
| NM_033056.3:c.5472_5496delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_149045.3:p.Ser1824= | |
| NM_001142769.2:c.4409+2882_4409+2906delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001136241.1:n.4409+2882_4409+2906delinsTATTCCTTGCCCTCCACCT... | |
| NM_001142770.2:c.4373+2882_4373+2906delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001136242.1:n.4373+2882_4373+2906delinsTATTCCTTGCCCTCCACCT... | |
| NM_001354404.1:c.5406_5430delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001341333.1:p.Ser1802= | |
| NM_001354411.1:c.4388+5139_4388+5163delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001341340.1:n.4388+5139_4388+5163delinsTATTCCTTGCCCTCCACCT... | |
| NM_001354420.1:c.4367+5139_4367+5163delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001341349.1:n.4367+5139_4367+5163delinsTATTCCTTGCCCTCCACCT... | |
| NM_001354429.1:c.4368-4241_4368-4217delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001341358.1:n.4368-4241_4368-4217delinsTATTCCTTGCCCTCCACCT... | |
| XM_017016573.2:c.4388+2882_4388+2906delinsTATTCCTTGCCCTCCACCTCCTTCA | XP_016872062.1:n.4388+2882_4388+2906delinsTATTCCTTGCCCTCCACCT... | |
| XR_001747192.2:n.6485_6509delinsTATTCCTTGCCCTCCACCTCCTTCA | ||
| XR_001747193.2:n.6476_6500delinsTATTCCTTGCCCTCCACCTCCTTCA | ||
| NM_001142763.2:c.5493_5517delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001136235.1:p.Ser1831= | |
| NM_001142764.2:c.5478_5502delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001136236.1:p.Ser1826= | |
| NM_001142765.2:c.5265_5289delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001136237.1:p.Ser1755= | |
| NM_001142766.2:c.5463_5487delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001136238.1:p.Ser1821= | |
| NM_001142768.2:c.5412_5436delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001136240.1:p.Ser1804= | |
| NM_001142769.3:c.4409+2882_4409+2906delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001136241.1:n.4409+2882_4409+2906delinsTATTCCTTGCCCTCCACCT... | |
| NM_001142770.3:c.4373+2882_4373+2906delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001136242.1:n.4373+2882_4373+2906delinsTATTCCTTGCCCTCCACCT... | |
| NM_001142771.2:c.4388+2882_4388+2906delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001136243.1:n.4388+2882_4388+2906delinsTATTCCTTGCCCTCCACCT... | |
| NM_001142772.2:c.4373+2882_4373+2906delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001136244.1:n.4373+2882_4373+2906delinsTATTCCTTGCCCTCCACCT... | |
| NM_001142773.2:c.5403_5427delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001136245.1:p.Ser1801= | |
| NM_001354411.2:c.4388+5139_4388+5163delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001341340.1:n.4388+5139_4388+5163delinsTATTCCTTGCCCTCCACCT... | |
| NM_001354420.2:c.4367+5139_4367+5163delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001341349.1:n.4367+5139_4367+5163delinsTATTCCTTGCCCTCCACCT... | |
| NM_001354429.2:c.4368-4241_4368-4217delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001341358.1:n.4368-4241_4368-4217delinsTATTCCTTGCCCTCCACCT... | |
| NM_033056.4:c.5472_5496delinsTATTCCTTGCCCTCCACCTCCTTCA MANE Plus Clinical | NP_149045.3:p.Ser1824= | |
| NM_001142767.2:c.5352_5376delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001136239.1:p.Ser1784= | |
| NM_001354404.2:c.5406_5430delinsTATTCCTTGCCCTCCACCTCCTTCA | NP_001341333.1:p.Ser1802= | |
| NM_001384140.1:c.4368-2024_4368-2000delinsTATTCCTTGCCCTCCACCTCCTTCA MANE Select | NP_001371069.1:n.4368-2024_4368-2000delinsTATTCCTTGCCCTCCACCT... |