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.5989831_5989833delinsTAAA , CM000669.2:g.5989831_5989833delinsTAAA | GRCh38 |
| NC_000007.13:g.6029462_6029464delinsTAAA , CM000669.1:g.6029462_6029464delinsTAAA | GRCh37 |
| NC_000007.12:g.5995988_5995990delinsTAAA | NCBI36 |
| NG_008466.1:g.24274_24276delinsTTTA , LRG_161:g.24274_24276delinsTTTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*507_*509delinsTTTA | ENSP00000514615.2:n.*507_*509delinsTTTA | |
| ENST00000699840.2:c.1108_1110delinsTTTA | ENSP00000514638.2:p.Asn370PhefsTer11 | |
| ENST00000699930.2:c.1003_1005delinsTTTA | ENSP00000514695.2:p.Asn335PhefsTer11 | |
| ENST00000406569.8:c.1111_1113delinsTTTA | ENSP00000514464.1:p.Asn371PhefsTer11 | |
| ENST00000644110.2:c.*705_*707delinsTTTA | ENSP00000496392.2:n.*705_*707delinsTTTA | |
| ENST00000699752.1:c.988+2140_988+2142delinsTTTA | ENSP00000514561.1:n.988+2140_988+2142delinsTTTA | |
| ENST00000699753.1:c.*532_*534delinsTTTA | ENSP00000514562.1:n.*532_*534delinsTTTA | |
| ENST00000699754.1:c.913_915delinsTTTA | ENSP00000514563.1:p.Asn305PhefsTer11 | |
| ENST00000699755.1:c.*510_*512delinsTTTA | ENSP00000514564.1:n.*510_*512delinsTTTA | |
| ENST00000699756.1:c.*698_*700delinsTTTA | ENSP00000514565.1:n.*698_*700delinsTTTA | |
| ENST00000699757.1:c.*368_*370delinsTTTA | ENSP00000514566.1:n.*368_*370delinsTTTA | |
| ENST00000699758.1:c.*368_*370delinsTTTA | ENSP00000514567.1:n.*368_*370delinsTTTA | |
| ENST00000699759.1:n.1965_1967delinsTTTA | ||
| ENST00000699760.1:c.793_795delinsTTTA | ENSP00000514568.1:p.Asn265PhefsTer11 | |
| ENST00000699761.1:c.706_708delinsTTTA | ENSP00000514569.1:p.Asn236PhefsTer11 | |
| ENST00000699762.1:c.538_540delinsTTTA | ENSP00000514570.1:p.Asn180PhefsTer11 | |
| ENST00000699763.1:c.*201_*203delinsTTTA | ENSP00000514571.1:n.*201_*203delinsTTTA | |
| ENST00000699764.1:c.1111_1113delinsTTTA | ENSP00000514572.1:p.Asn371PhefsTer11 | |
| ENST00000699765.1:c.*207_*209delinsTTTA | ENSP00000514573.1:n.*207_*209delinsTTTA | |
| ENST00000699766.1:c.1111_1113delinsTTTA | ENSP00000514574.1:p.Asn371PhefsTer11 | |
| ENST00000699767.1:c.1111_1113delinsTTTA | ENSP00000514575.1:p.Asn371PhefsTer11 | |
| ENST00000699768.1:c.1111_1113delinsTTTA | ENSP00000514576.1:p.Asn371PhefsTer11 | |
| ENST00000699811.1:c.706_708delinsTTTA | ENSP00000514614.1:p.Asn236PhefsTer11 | |
| ENST00000699813.1:n.1224_1226delinsTTTA | ||
| ENST00000699814.1:c.734_736delinsTTTA | ||
| ENST00000699815.1:c.*603_*605delinsTTTA | ENSP00000514616.1:n.*603_*605delinsTTTA | |
| ENST00000699816.1:c.706_708delinsTTTA | ENSP00000514617.1:p.Asn236PhefsTer11 | |
| ENST00000699817.1:c.*705_*707delinsTTTA | ENSP00000514618.1:n.*705_*707delinsTTTA | |
| ENST00000699818.1:c.706_708delinsTTTA | ENSP00000514619.1:p.Asn236PhefsTer11 | |
| ENST00000699819.1:c.*268_*270delinsTTTA | ENSP00000514620.1:n.*268_*270delinsTTTA | |
| ENST00000699820.1:c.1111_1113delinsTTTA | ENSP00000514621.1:p.Asn371PhefsTer11 | |
| ENST00000699821.1:c.706_708delinsTTTA | ENSP00000514622.1:p.Asn236PhefsTer11 | |
| ENST00000699822.1:c.*563_*565delinsTTTA | ENSP00000514623.1:n.*563_*565delinsTTTA | |
| ENST00000699823.1:c.706_708delinsTTTA | ENSP00000514624.1:p.Asn236PhefsTer11 | |
| ENST00000699824.1:c.*614_*616delinsTTTA | ENSP00000514625.1:n.*614_*616delinsTTTA | |
| ENST00000699825.1:c.583+2140_583+2142delinsTTTA | ENSP00000514626.1:n.583+2140_583+2142delinsTTTA | |
| ENST00000699826.1:c.*510_*512delinsTTTA | ENSP00000514627.1:n.*510_*512delinsTTTA | |
| ENST00000699827.1:c.943_945delinsTTTA | ENSP00000514628.1:p.Asn315PhefsTer11 | |
| ENST00000699828.1:c.*201_*203delinsTTTA | ENSP00000514629.1:n.*201_*203delinsTTTA | |
| ENST00000699829.1:c.*612_*614delinsTTTA | ENSP00000514630.1:n.*612_*614delinsTTTA | |
| ENST00000699830.1:c.*510_*512delinsTTTA | ENSP00000514631.1:n.*510_*512delinsTTTA | |
| ENST00000699833.1:n.2883_2885delinsTTTA | ||
| ENST00000699837.1:c.706_708delinsTTTA | ENSP00000514635.1:p.Asn236PhefsTer11 | |
| ENST00000699838.1:c.*1011_*1013delinsTTTA | ENSP00000514636.1:n.*1011_*1013delinsTTTA | |
| ENST00000699839.1:c.1297_1299delinsTTTA | ENSP00000514637.1:p.Asn433PhefsTer11 | |
| ENST00000699840.1:c.1108_1110delinsTTTA | ENSP00000514638.1:p.Asn370PhefsTer11 | |
| ENST00000699916.1:c.*368_*370delinsTTTA | ENSP00000514684.1:n.*368_*370delinsTTTA | |
| ENST00000699917.1:c.*560_*562delinsTTTA | ENSP00000514685.1:n.*560_*562delinsTTTA | |
| ENST00000699918.1:c.*612_*614delinsTTTA | ENSP00000514686.1:n.*612_*614delinsTTTA | |
| ENST00000699919.1:c.*698_*700delinsTTTA | ENSP00000514687.1:n.*698_*700delinsTTTA | |
| ENST00000699920.1:c.*747_*749delinsTTTA | ENSP00000514688.1:n.*747_*749delinsTTTA | |
| ENST00000699928.1:c.988+2140_988+2142delinsTTTA | ENSP00000514693.1:n.988+2140_988+2142delinsTTTA | |
| ENST00000699929.1:c.*412_*414delinsTTTA | ENSP00000514694.1:n.*412_*414delinsTTTA | |
| ENST00000699930.1:c.1003_1005delinsTTTA | ENSP00000514695.1:p.Asn335PhefsTer11 | |
| ENST00000699931.1:n.2539_2541delinsTTTA | ||
| ENST00000699932.1:c.*329_*331delinsTTTA | ENSP00000514696.1:n.*329_*331delinsTTTA | |
| ENST00000699933.1:n.1091_1093delinsTTTA | ||
| ENST00000699951.1:c.*207_*209delinsTTTA | ENSP00000514706.1:n.*207_*209delinsTTTA | |
| ENST00000699952.1:c.803+7493_803+7495delinsTTTA | ENSP00000514707.1:n.803+7493_803+7495delinsTTTA | |
| ENST00000699953.1:c.*218_*220delinsTTTA | ENSP00000514708.1:n.*218_*220delinsTTTA | |
| ENST00000699954.1:c.*412_*414delinsTTTA | ENSP00000514709.1:n.*412_*414delinsTTTA | |
| ENST00000265849.12:c.1111_1113delinsTTTA MANE Select | ENSP00000265849.7:p.Asn371PhefsTer11 | |
| ENST00000642292.1:c.706_708delinsTTTA | ENSP00000495524.1:p.Asn236PhefsTer11 | |
| ENST00000642456.1:c.706_708delinsTTTA | ENSP00000493814.1:p.Asn236PhefsTer11 | |
| ENST00000643595.1:c.*510_*512delinsTTTA | ENSP00000494497.1:n.*510_*512delinsTTTA | |
| ENST00000644110.1:c.793_795delinsTTTA | ENSP00000496392.1:p.Asn265PhefsTer11 | |
| ENST00000265849.11:c.1111_1113delinsTTTA | ENSP00000265849.7:p.Asn371PhefsTer11 | |
| ENST00000382321.5:c.804-6842_804-6840delinsTTTA | ENSP00000371758.4:n.804-6842_804-6840delinsTTTA | |
| ENST00000406569.7:n.1111_1113delinsTTTA | ||
| ENST00000441476.6:c.793_795delinsTTTA | ENSP00000392843.2:p.Asn265PhefsTer11 | |
| ENST00000469652.1:n.63-6928_63-6926delinsTTTA | ||
| NM_000535.5:c.1111_1113delinsTTTA , LRG_161t1:c.1111_1113delinsTTTA | NP_000526.1:p.Asn371PhefsTer11 | |
| NR_003085.2:n.1193_1195delinsTTTA | ||
| XM_006715742.2:c.1105_1107delinsTTTA | XP_006715805.1:p.Asn369PhefsTer11 | |
| XM_006715744.2:c.178_180delinsTTTA | XP_006715807.1:p.Asn60PhefsTer11 | |
| XM_011515427.1:c.1156_1158delinsTTTA | XP_011513729.1:p.Asn386PhefsTer11 | |
| XM_011515428.1:c.1033+2140_1033+2142delinsTTTA | XP_011513730.1:n.1033+2140_1033+2142delinsTTTA | |
| XM_011515429.1:c.793_795delinsTTTA | XP_011513731.1:p.Asn265PhefsTer11 | |
| XM_011515430.1:c.793_795delinsTTTA | XP_011513732.1:p.Asn265PhefsTer11 | |
| NM_000535.6:c.1111_1113delinsTTTA | NP_000526.2:p.Asn371PhefsTer11 | |
| NM_001322003.1:c.706_708delinsTTTA | NP_001308932.1:p.Asn236PhefsTer11 | |
| NM_001322004.1:c.706_708delinsTTTA | NP_001308933.1:p.Asn236PhefsTer11 | |
| NM_001322005.1:c.706_708delinsTTTA | NP_001308934.1:p.Asn236PhefsTer11 | |
| NM_001322006.1:c.988+2140_988+2142delinsTTTA | NP_001308935.1:n.988+2140_988+2142delinsTTTA | |
| NM_001322007.1:c.793_795delinsTTTA | NP_001308936.1:p.Asn265PhefsTer11 | |
| NM_001322008.1:c.793_795delinsTTTA | NP_001308937.1:p.Asn265PhefsTer11 | |
| NM_001322009.1:c.706_708delinsTTTA | NP_001308938.1:p.Asn236PhefsTer11 | |
| NM_001322010.1:c.583+2140_583+2142delinsTTTA | NP_001308939.1:n.583+2140_583+2142delinsTTTA | |
| NM_001322011.1:c.178_180delinsTTTA | NP_001308940.1:p.Asn60PhefsTer11 | |
| NM_001322012.1:c.178_180delinsTTTA | NP_001308941.1:p.Asn60PhefsTer11 | |
| NM_001322013.1:c.538_540delinsTTTA | NP_001308942.1:p.Asn180PhefsTer11 | |
| NM_001322014.1:c.1111_1113delinsTTTA | NP_001308943.1:p.Asn371PhefsTer11 | |
| NM_001322015.1:c.802_804delinsTTTA | NP_001308944.1:p.Asn268PhefsTer11 | |
| NR_136154.1:n.1198_1200delinsTTTA | ||
| XM_006715744.4:c.178_180delinsTTTA | XP_006715807.1:p.Asn60PhefsTer11 | |
| XM_017012342.2:c.178_180delinsTTTA | XP_016867831.1:p.Asn60PhefsTer11 | |
| XM_024446800.1:c.583+2140_583+2142delinsTTTA | XP_024302568.1:n.583+2140_583+2142delinsTTTA | |
| NM_000535.7:c.1111_1113delinsTTTA MANE Select | NP_000526.2:p.Asn371PhefsTer11 | |
| NM_001322003.2:c.706_708delinsTTTA | NP_001308932.1:p.Asn236PhefsTer11 | |
| NM_001322004.2:c.706_708delinsTTTA | NP_001308933.1:p.Asn236PhefsTer11 | |
| NM_001322005.2:c.706_708delinsTTTA | NP_001308934.1:p.Asn236PhefsTer11 | |
| NM_001322006.2:c.988+2140_988+2142delinsTTTA | NP_001308935.1:n.988+2140_988+2142delinsTTTA | |
| NM_001322008.2:c.793_795delinsTTTA | NP_001308937.1:p.Asn265PhefsTer11 | |
| NM_001322009.2:c.706_708delinsTTTA | NP_001308938.1:p.Asn236PhefsTer11 | |
| NM_001322010.2:c.583+2140_583+2142delinsTTTA | NP_001308939.1:n.583+2140_583+2142delinsTTTA | |
| NM_001322011.2:c.178_180delinsTTTA | NP_001308940.1:p.Asn60PhefsTer11 | |
| NM_001322012.2:c.178_180delinsTTTA | NP_001308941.1:p.Asn60PhefsTer11 | |
| NM_001322013.2:c.538_540delinsTTTA | NP_001308942.1:p.Asn180PhefsTer11 | |
| NM_001322014.2:c.1111_1113delinsTTTA | NP_001308943.1:p.Asn371PhefsTer11 | |
| NM_001322015.2:c.802_804delinsTTTA | NP_001308944.1:p.Asn268PhefsTer11 | |
| NM_001322007.2:c.793_795delinsTTTA | NP_001308936.1:p.Asn265PhefsTer11 |