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_000007.14:g.5973433del , CM000669.2:g.5973433del | GRCh38 |
| NC_000007.13:g.6013064del , CM000669.1:g.6013064del | GRCh37 |
| NC_000007.12:g.5979590del | NCBI36 |
| NG_008466.1:g.40674del , LRG_161:g.40674del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1951del | ENSP00000514615.2:n.*1951del | |
| ENST00000699840.2:c.2552del | ENSP00000514638.2:p.His851ProfsTer19 | |
| ENST00000699930.2:c.2447del | ENSP00000514695.2:p.His816ProfsTer19 | |
| ENST00000406569.8:c.1915del | ENSP00000514464.1:n.1915del | |
| ENST00000644110.2:c.*2149del | ENSP00000496392.2:n.*2149del | |
| ENST00000699752.1:c.2399del | ENSP00000514561.1:p.His800ProfsTer19 | |
| ENST00000699753.1:c.*1976del | ENSP00000514562.1:n.*1976del | |
| ENST00000699754.1:c.2357del | ENSP00000514563.1:p.His786ProfsTer19 | |
| ENST00000699755.1:c.*1954del | ENSP00000514564.1:n.*1954del | |
| ENST00000699756.1:c.*2142del | ENSP00000514565.1:n.*2142del | |
| ENST00000699757.1:c.*1812del | ENSP00000514566.1:n.*1812del | |
| ENST00000699758.1:c.*1812del | ENSP00000514567.1:n.*1812del | |
| ENST00000699759.1:n.3409del | ||
| ENST00000699760.1:c.2237del | ENSP00000514568.1:p.His746ProfsTer19 | |
| ENST00000699761.1:c.2150del | ENSP00000514569.1:p.His717ProfsTer19 | |
| ENST00000699762.1:c.1982del | ENSP00000514570.1:p.His661ProfsTer19 | |
| ENST00000699763.1:c.*1645del | ENSP00000514571.1:n.*1645del | |
| ENST00000699764.1:c.*873del | ENSP00000514572.1:n.*873del | |
| ENST00000699765.1:c.*1550del | ENSP00000514573.1:n.*1550del | |
| ENST00000699766.1:c.2588del | ENSP00000514574.1:p.His863ProfsTer19 | |
| ENST00000699767.1:c.*196del | ENSP00000514575.1:n.*196del | |
| ENST00000699768.1:c.2411del | ENSP00000514576.1:p.His804ProfsTer19 | |
| ENST00000699811.1:c.2150del | ENSP00000514614.1:p.His717ProfsTer19 | |
| ENST00000699813.1:n.2668del | ||
| ENST00000699814.1:c.2178del | ||
| ENST00000699815.1:c.*2086del | ENSP00000514616.1:n.*2086del | |
| ENST00000699816.1:c.*1445del | ENSP00000514617.1:n.*1445del | |
| ENST00000699817.1:c.*2149del | ENSP00000514618.1:n.*2149del | |
| ENST00000699818.1:c.2150del | ENSP00000514619.1:p.His717ProfsTer19 | |
| ENST00000699819.1:c.*1712del | ENSP00000514620.1:n.*1712del | |
| ENST00000699820.1:c.*493del | ENSP00000514621.1:n.*493del | |
| ENST00000699821.1:c.2183del | ENSP00000514622.1:p.His728ProfsTer19 | |
| ENST00000699822.1:c.*2007del | ENSP00000514623.1:n.*2007del | |
| ENST00000699823.1:c.2150del | ENSP00000514624.1:p.His717ProfsTer19 | |
| ENST00000699824.1:c.*2058del | ENSP00000514625.1:n.*2058del | |
| ENST00000699825.1:c.1994del | ENSP00000514626.1:p.His665ProfsTer19 | |
| ENST00000699826.1:c.*1954del | ENSP00000514627.1:n.*1954del | |
| ENST00000699827.1:c.2387del | ENSP00000514628.1:p.His796ProfsTer19 | |
| ENST00000699828.1:c.*1645del | ENSP00000514629.1:n.*1645del | |
| ENST00000699833.1:n.4327del | ||
| ENST00000699837.1:c.2150del | ENSP00000514635.1:p.His717ProfsTer19 | |
| ENST00000699838.1:c.*2455del | ENSP00000514636.1:n.*2455del | |
| ENST00000699839.1:c.2741del | ENSP00000514637.1:p.His914ProfsTer19 | |
| ENST00000699916.1:c.*1812del | ENSP00000514684.1:n.*1812del | |
| ENST00000699917.1:c.*2004del | ENSP00000514685.1:n.*2004del | |
| ENST00000699918.1:c.*2056del | ENSP00000514686.1:n.*2056del | |
| ENST00000699919.1:c.*2142del | ENSP00000514687.1:n.*2142del | |
| ENST00000699920.1:c.*2191del | ENSP00000514688.1:n.*2191del | |
| ENST00000699928.1:c.*493del | ENSP00000514693.1:n.*493del | |
| ENST00000699951.1:c.*1608del | ENSP00000514706.1:n.*1608del | |
| ENST00000699952.1:c.*109del | ENSP00000514707.1:n.*109del | |
| ENST00000265849.12:c.2555del MANE Select | ENSP00000265849.7:p.His852ProfsTer19 | |
| ENST00000642292.1:c.2150del | ENSP00000495524.1:p.His717ProfsTer19 | |
| ENST00000642456.1:c.2150del | ENSP00000493814.1:p.His717ProfsTer19 | |
| ENST00000643595.1:c.*1954del | ENSP00000494497.1:n.*1954del | |
| ENST00000644110.1:c.2237del | ENSP00000496392.1:p.His746ProfsTer? | |
| ENST00000265849.11:c.2555del | ENSP00000265849.7:p.His852ProfsTer19 | |
| ENST00000382321.5:c.1352del | ENSP00000371758.4:p.His451ProfsTer? | |
| ENST00000441476.6:c.2237del | ENSP00000392843.2:p.His746ProfsTer19 | |
| NM_000535.5:c.2555del , LRG_161t1:c.2555del | NP_000526.1:p.His852ProfsTer19 | |
| NR_003085.2:n.2637del | ||
| XM_006715742.2:c.2549del | XP_006715805.1:p.His850ProfsTer19 | |
| XM_006715744.2:c.1622del | XP_006715807.1:p.His541ProfsTer19 | |
| XM_011515427.1:c.2600del | XP_011513729.1:p.His867ProfsTer19 | |
| XM_011515428.1:c.2444del | XP_011513730.1:p.His815ProfsTer19 | |
| XM_011515429.1:c.2237del | XP_011513731.1:p.His746ProfsTer19 | |
| XM_011515430.1:c.2237del | XP_011513732.1:p.His746ProfsTer19 | |
| NM_000535.6:c.2555del | NP_000526.2:p.His852ProfsTer19 | |
| NM_001322003.1:c.2150del | NP_001308932.1:p.His717ProfsTer19 | |
| NM_001322004.1:c.2150del | NP_001308933.1:p.His717ProfsTer19 | |
| NM_001322005.1:c.2150del | NP_001308934.1:p.His717ProfsTer19 | |
| NM_001322006.1:c.2399del | NP_001308935.1:p.His800ProfsTer19 | |
| NM_001322007.1:c.2237del | NP_001308936.1:p.His746ProfsTer19 | |
| NM_001322008.1:c.2237del | NP_001308937.1:p.His746ProfsTer19 | |
| NM_001322009.1:c.2183del | NP_001308938.1:p.His728ProfsTer19 | |
| NM_001322010.1:c.1994del | NP_001308939.1:p.His665ProfsTer19 | |
| NM_001322011.1:c.1622del | NP_001308940.1:p.His541ProfsTer19 | |
| NM_001322012.1:c.1622del | NP_001308941.1:p.His541ProfsTer19 | |
| NM_001322013.1:c.1982del | NP_001308942.1:p.His661ProfsTer19 | |
| NM_001322014.1:c.2588del | NP_001308943.1:p.His863ProfsTer19 | |
| NM_001322015.1:c.2246del | NP_001308944.1:p.His749ProfsTer19 | |
| NR_136154.1:n.2599del | ||
| XM_006715744.4:c.1622del | XP_006715807.1:p.His541ProfsTer19 | |
| XM_017012342.2:c.1622del | XP_016867831.1:p.His541ProfsTer19 | |
| XM_024446800.1:c.1994del | XP_024302568.1:p.His665ProfsTer19 | |
| NM_000535.7:c.2555del MANE Select | NP_000526.2:p.His852ProfsTer19 | |
| NM_001322003.2:c.2150del | NP_001308932.1:p.His717ProfsTer19 | |
| NM_001322004.2:c.2150del | NP_001308933.1:p.His717ProfsTer19 | |
| NM_001322005.2:c.2150del | NP_001308934.1:p.His717ProfsTer19 | |
| NM_001322006.2:c.2399del | NP_001308935.1:p.His800ProfsTer19 | |
| NM_001322008.2:c.2237del | NP_001308937.1:p.His746ProfsTer19 | |
| NM_001322009.2:c.2183del | NP_001308938.1:p.His728ProfsTer19 | |
| NM_001322010.2:c.1994del | NP_001308939.1:p.His665ProfsTer19 | |
| NM_001322011.2:c.1622del | NP_001308940.1:p.His541ProfsTer19 | |
| NM_001322012.2:c.1622del | NP_001308941.1:p.His541ProfsTer19 | |
| NM_001322013.2:c.1982del | NP_001308942.1:p.His661ProfsTer19 | |
| NM_001322014.2:c.2588del | NP_001308943.1:p.His863ProfsTer19 | |
| NM_001322015.2:c.2246del | NP_001308944.1:p.His749ProfsTer19 | |
| NM_001322007.2:c.2237del | NP_001308936.1:p.His746ProfsTer19 |