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.5982970_5982975del , CM000669.2:g.5982970_5982975del | GRCh38 |
| NC_000007.13:g.6022601_6022606del , CM000669.1:g.6022601_6022606del | GRCh37 |
| NC_000007.12:g.5989127_5989132del | NCBI36 |
| NG_008466.1:g.31137_31142del , LRG_161:g.31137_31142del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1424_*1429del | ENSP00000514615.2:n.*1424_*1429del | |
| ENST00000699840.2:c.2025_2030del | ENSP00000514638.2:p.Met675_Glu676del | |
| ENST00000699930.2:c.1920_1925del | ENSP00000514695.2:p.Met640_Glu641del | |
| ENST00000406569.8:c.1678+4117_1678+4122del | ENSP00000514464.1:n.1678+4117_1678+4122del | |
| ENST00000644110.2:c.*1622_*1627del | ENSP00000496392.2:n.*1622_*1627del | |
| ENST00000699752.1:c.1872_1877del | ENSP00000514561.1:p.Met624_Glu625del | |
| ENST00000699753.1:c.*1449_*1454del | ENSP00000514562.1:n.*1449_*1454del | |
| ENST00000699754.1:c.1830_1835del | ENSP00000514563.1:p.Met610_Glu611del | |
| ENST00000699755.1:c.*1427_*1432del | ENSP00000514564.1:n.*1427_*1432del | |
| ENST00000699756.1:c.*1615_*1620del | ENSP00000514565.1:n.*1615_*1620del | |
| ENST00000699757.1:c.*1285_*1290del | ENSP00000514566.1:n.*1285_*1290del | |
| ENST00000699758.1:c.*1285_*1290del | ENSP00000514567.1:n.*1285_*1290del | |
| ENST00000699759.1:n.2882_2887del | ||
| ENST00000699760.1:c.1710_1715del | ENSP00000514568.1:p.Met570_Glu571del | |
| ENST00000699761.1:c.1623_1628del | ENSP00000514569.1:p.Met541_Glu542del | |
| ENST00000699762.1:c.1455_1460del | ENSP00000514570.1:p.Met485_Glu486del | |
| ENST00000699763.1:c.*1118_*1123del | ENSP00000514571.1:n.*1118_*1123del | |
| ENST00000699764.1:c.*346_*351del | ENSP00000514572.1:n.*346_*351del | |
| ENST00000699765.1:c.*1124_*1129del | ENSP00000514573.1:n.*1124_*1129del | |
| ENST00000699766.1:c.2028_2033del | ENSP00000514574.1:p.Met676_Glu677del | |
| ENST00000699767.1:c.2028_2033del | ENSP00000514575.1:p.Met676_Glu677del | |
| ENST00000699768.1:c.2028_2033del | ENSP00000514576.1:p.Met676_Glu677del | |
| ENST00000699811.1:c.1623_1628del | ENSP00000514614.1:p.Met541_Glu542del | |
| ENST00000699813.1:n.2141_2146del | ||
| ENST00000699814.1:c.1651_1656del | ||
| ENST00000699815.1:c.*1559_*1564del | ENSP00000514616.1:n.*1559_*1564del | |
| ENST00000699816.1:c.*918_*923del | ENSP00000514617.1:n.*918_*923del | |
| ENST00000699817.1:c.*1622_*1627del | ENSP00000514618.1:n.*1622_*1627del | |
| ENST00000699818.1:c.1623_1628del | ENSP00000514619.1:p.Met541_Glu542del | |
| ENST00000699819.1:c.*1185_*1190del | ENSP00000514620.1:n.*1185_*1190del | |
| ENST00000699820.1:c.1166_1171del | ENSP00000514621.1:p.Trp389_Lys390del | |
| ENST00000699821.1:c.1623_1628del | ENSP00000514622.1:p.Met541_Glu542del | |
| ENST00000699822.1:c.*1480_*1485del | ENSP00000514623.1:n.*1480_*1485del | |
| ENST00000699823.1:c.1623_1628del | ENSP00000514624.1:p.Met541_Glu542del | |
| ENST00000699824.1:c.*1531_*1536del | ENSP00000514625.1:n.*1531_*1536del | |
| ENST00000699825.1:c.1467_1472del | ENSP00000514626.1:p.Met489_Glu490del | |
| ENST00000699826.1:c.*1427_*1432del | ENSP00000514627.1:n.*1427_*1432del | |
| ENST00000699827.1:c.1860_1865del | ENSP00000514628.1:p.Met620_Glu621del | |
| ENST00000699828.1:c.*1118_*1123del | ENSP00000514629.1:n.*1118_*1123del | |
| ENST00000699833.1:n.3800_3805del | ||
| ENST00000699837.1:c.1623_1628del | ENSP00000514635.1:p.Met541_Glu542del | |
| ENST00000699838.1:c.*1928_*1933del | ENSP00000514636.1:n.*1928_*1933del | |
| ENST00000699839.1:c.2214_2219del | ENSP00000514637.1:p.Met738_Glu739del | |
| ENST00000699916.1:c.*1285_*1290del | ENSP00000514684.1:n.*1285_*1290del | |
| ENST00000699917.1:c.*1477_*1482del | ENSP00000514685.1:n.*1477_*1482del | |
| ENST00000699918.1:c.*1529_*1534del | ENSP00000514686.1:n.*1529_*1534del | |
| ENST00000699919.1:c.*1615_*1620del | ENSP00000514687.1:n.*1615_*1620del | |
| ENST00000699920.1:c.*1664_*1669del | ENSP00000514688.1:n.*1664_*1669del | |
| ENST00000699928.1:c.1010_1015del | ENSP00000514693.1:p.Trp337_Lys338del | |
| ENST00000699951.1:c.*1124_*1129del | ENSP00000514706.1:n.*1124_*1129del | |
| ENST00000699952.1:c.804-9428_804-9423del | ENSP00000514707.1:n.804-9428_804-9423del | |
| ENST00000265849.12:c.2028_2033del MANE Select | ENSP00000265849.7:p.Met676_Glu677del | |
| ENST00000642292.1:c.1623_1628del | ENSP00000495524.1:p.Met541_Glu542del | |
| ENST00000642456.1:c.1623_1628del | ENSP00000493814.1:p.Met541_Glu542del | |
| ENST00000643595.1:c.*1427_*1432del | ENSP00000494497.1:n.*1427_*1432del | |
| ENST00000644110.1:c.1710_1715del | ENSP00000496392.1:p.Met570_Glu571del | |
| ENST00000265849.11:c.2028_2033del | ENSP00000265849.7:p.Met676_Glu677del | |
| ENST00000382321.5:c.825_830del | ENSP00000371758.4:p.Met275_Glu276del | |
| ENST00000406569.7:n.1678+4117_1678+4122del | ||
| ENST00000441476.6:c.1710_1715del | ENSP00000392843.2:p.Met570_Glu571del | |
| ENST00000469652.1:n.63-65_63-60del | ||
| NM_000535.5:c.2028_2033del , LRG_161t1:c.2028_2033del | NP_000526.1:p.Met676_Glu677del | |
| NR_003085.2:n.2110_2115del | ||
| XM_006715742.2:c.2022_2027del | XP_006715805.1:p.Met674_Glu675del | |
| XM_006715744.2:c.1095_1100del | XP_006715807.1:p.Met365_Glu366del | |
| XM_011515427.1:c.2073_2078del | XP_011513729.1:p.Met691_Glu692del | |
| XM_011515428.1:c.1917_1922del | XP_011513730.1:p.Met639_Glu640del | |
| XM_011515429.1:c.1710_1715del | XP_011513731.1:p.Met570_Glu571del | |
| XM_011515430.1:c.1710_1715del | XP_011513732.1:p.Met570_Glu571del | |
| NM_000535.6:c.2028_2033del | NP_000526.2:p.Met676_Glu677del | |
| NM_001322003.1:c.1623_1628del | NP_001308932.1:p.Met541_Glu542del | |
| NM_001322004.1:c.1623_1628del | NP_001308933.1:p.Met541_Glu542del | |
| NM_001322005.1:c.1623_1628del | NP_001308934.1:p.Met541_Glu542del | |
| NM_001322006.1:c.1872_1877del | NP_001308935.1:p.Met624_Glu625del | |
| NM_001322007.1:c.1710_1715del | NP_001308936.1:p.Met570_Glu571del | |
| NM_001322008.1:c.1710_1715del | NP_001308937.1:p.Met570_Glu571del | |
| NM_001322009.1:c.1623_1628del | NP_001308938.1:p.Met541_Glu542del | |
| NM_001322010.1:c.1467_1472del | NP_001308939.1:p.Met489_Glu490del | |
| NM_001322011.1:c.1095_1100del | NP_001308940.1:p.Met365_Glu366del | |
| NM_001322012.1:c.1095_1100del | NP_001308941.1:p.Met365_Glu366del | |
| NM_001322013.1:c.1455_1460del | NP_001308942.1:p.Met485_Glu486del | |
| NM_001322014.1:c.2028_2033del | NP_001308943.1:p.Met676_Glu677del | |
| NM_001322015.1:c.1719_1724del | NP_001308944.1:p.Met573_Glu574del | |
| NR_136154.1:n.2115_2120del | ||
| XM_006715744.4:c.1095_1100del | XP_006715807.1:p.Met365_Glu366del | |
| XM_017012342.2:c.1095_1100del | XP_016867831.1:p.Met365_Glu366del | |
| XM_024446800.1:c.1467_1472del | XP_024302568.1:p.Met489_Glu490del | |
| NM_000535.7:c.2028_2033del MANE Select | NP_000526.2:p.Met676_Glu677del | |
| NM_001322003.2:c.1623_1628del | NP_001308932.1:p.Met541_Glu542del | |
| NM_001322004.2:c.1623_1628del | NP_001308933.1:p.Met541_Glu542del | |
| NM_001322005.2:c.1623_1628del | NP_001308934.1:p.Met541_Glu542del | |
| NM_001322006.2:c.1872_1877del | NP_001308935.1:p.Met624_Glu625del | |
| NM_001322008.2:c.1710_1715del | NP_001308937.1:p.Met570_Glu571del | |
| NM_001322009.2:c.1623_1628del | NP_001308938.1:p.Met541_Glu542del | |
| NM_001322010.2:c.1467_1472del | NP_001308939.1:p.Met489_Glu490del | |
| NM_001322011.2:c.1095_1100del | NP_001308940.1:p.Met365_Glu366del | |
| NM_001322012.2:c.1095_1100del | NP_001308941.1:p.Met365_Glu366del | |
| NM_001322013.2:c.1455_1460del | NP_001308942.1:p.Met485_Glu486del | |
| NM_001322014.2:c.2028_2033del | NP_001308943.1:p.Met676_Glu677del | |
| NM_001322015.2:c.1719_1724del | NP_001308944.1:p.Met573_Glu574del | |
| NM_001322007.2:c.1710_1715del | NP_001308936.1:p.Met570_Glu571del |