UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5987091_5987092delinsCC , CM000669.2:g.5987091_5987092delinsCC | GRCh38 |
| NC_000007.13:g.6026722_6026723delinsCC , CM000669.1:g.6026722_6026723delinsCC | GRCh37 |
| NC_000007.12:g.5993248_5993249delinsCC | NCBI36 |
| NG_008466.1:g.27015_27016delinsGG , LRG_161:g.27015_27016delinsGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1069_*1070delinsGG | ENSP00000514615.2:n.*1069_*1070delinsGG | |
| ENST00000699840.2:c.1670_1671delinsGG | ENSP00000514638.2:p.Thr557Arg | |
| ENST00000699930.2:c.1565_1566delinsGG | ENSP00000514695.2:p.Thr522Arg | |
| ENST00000406569.8:c.1673_1674delinsGG | ENSP00000514464.1:p.Thr558Arg | |
| ENST00000644110.2:c.*1267_*1268delinsGG | ENSP00000496392.2:n.*1267_*1268delinsGG | |
| ENST00000699752.1:c.1517_1518delinsGG | ENSP00000514561.1:p.Thr506Arg | |
| ENST00000699753.1:c.*1094_*1095delinsGG | ENSP00000514562.1:n.*1094_*1095delinsGG | |
| ENST00000699754.1:c.1475_1476delinsGG | ENSP00000514563.1:p.Thr492Arg | |
| ENST00000699755.1:c.*1072_*1073delinsGG | ENSP00000514564.1:n.*1072_*1073delinsGG | |
| ENST00000699756.1:c.*1260_*1261delinsGG | ENSP00000514565.1:n.*1260_*1261delinsGG | |
| ENST00000699757.1:c.*930_*931delinsGG | ENSP00000514566.1:n.*930_*931delinsGG | |
| ENST00000699758.1:c.*930_*931delinsGG | ENSP00000514567.1:n.*930_*931delinsGG | |
| ENST00000699759.1:n.2527_2528delinsGG | ||
| ENST00000699760.1:c.1355_1356delinsGG | ENSP00000514568.1:p.Thr452Arg | |
| ENST00000699761.1:c.1268_1269delinsGG | ENSP00000514569.1:p.Thr423Arg | |
| ENST00000699762.1:c.1100_1101delinsGG | ENSP00000514570.1:p.Thr367Arg | |
| ENST00000699763.1:c.*763_*764delinsGG | ENSP00000514571.1:n.*763_*764delinsGG | |
| ENST00000699764.1:c.1584_1585delinsGG | ENSP00000514572.1:p.Tyr528Ter | |
| ENST00000699765.1:c.*769_*770delinsGG | ENSP00000514573.1:n.*769_*770delinsGG | |
| ENST00000699766.1:c.1673_1674delinsGG | ENSP00000514574.1:p.Thr558Arg | |
| ENST00000699767.1:c.1673_1674delinsGG | ENSP00000514575.1:p.Thr558Arg | |
| ENST00000699768.1:c.1673_1674delinsGG | ENSP00000514576.1:p.Thr558Arg | |
| ENST00000699811.1:c.1268_1269delinsGG | ENSP00000514614.1:p.Thr423Arg | |
| ENST00000699813.1:n.1786_1787delinsGG | ||
| ENST00000699814.1:c.1296_1297delinsGG | ||
| ENST00000699815.1:c.*1204_*1205delinsGG | ENSP00000514616.1:n.*1204_*1205delinsGG | |
| ENST00000699816.1:c.*563_*564delinsGG | ENSP00000514617.1:n.*563_*564delinsGG | |
| ENST00000699817.1:c.*1267_*1268delinsGG | ENSP00000514618.1:n.*1267_*1268delinsGG | |
| ENST00000699818.1:c.1268_1269delinsGG | ENSP00000514619.1:p.Thr423Arg | |
| ENST00000699819.1:c.*830_*831delinsGG | ENSP00000514620.1:n.*830_*831delinsGG | |
| ENST00000699820.1:c.1144+2708_1144+2709delinsGG | ENSP00000514621.1:n.1144+2708_1144+2709delinsGG | |
| ENST00000699821.1:c.1268_1269delinsGG | ENSP00000514622.1:p.Thr423Arg | |
| ENST00000699822.1:c.*1125_*1126delinsGG | ENSP00000514623.1:n.*1125_*1126delinsGG | |
| ENST00000699823.1:c.1268_1269delinsGG | ENSP00000514624.1:p.Thr423Arg | |
| ENST00000699824.1:c.*1176_*1177delinsGG | ENSP00000514625.1:n.*1176_*1177delinsGG | |
| ENST00000699825.1:c.1112_1113delinsGG | ENSP00000514626.1:p.Thr371Arg | |
| ENST00000699826.1:c.*1072_*1073delinsGG | ENSP00000514627.1:n.*1072_*1073delinsGG | |
| ENST00000699827.1:c.1505_1506delinsGG | ENSP00000514628.1:p.Thr502Arg | |
| ENST00000699828.1:c.*763_*764delinsGG | ENSP00000514629.1:n.*763_*764delinsGG | |
| ENST00000699833.1:n.3445_3446delinsGG | ||
| ENST00000699837.1:c.1268_1269delinsGG | ENSP00000514635.1:p.Thr423Arg | |
| ENST00000699838.1:c.*1573_*1574delinsGG | ENSP00000514636.1:n.*1573_*1574delinsGG | |
| ENST00000699839.1:c.1859_1860delinsGG | ENSP00000514637.1:p.Thr620Arg | |
| ENST00000699916.1:c.*930_*931delinsGG | ENSP00000514684.1:n.*930_*931delinsGG | |
| ENST00000699917.1:c.*1122_*1123delinsGG | ENSP00000514685.1:n.*1122_*1123delinsGG | |
| ENST00000699918.1:c.*1174_*1175delinsGG | ENSP00000514686.1:n.*1174_*1175delinsGG | |
| ENST00000699919.1:c.*1260_*1261delinsGG | ENSP00000514687.1:n.*1260_*1261delinsGG | |
| ENST00000699920.1:c.*1309_*1310delinsGG | ENSP00000514688.1:n.*1309_*1310delinsGG | |
| ENST00000699928.1:c.989-4101_989-4100delinsGG | ENSP00000514693.1:n.989-4101_989-4100delinsGG | |
| ENST00000699929.1:c.*974_*975delinsGG | ENSP00000514694.1:n.*974_*975delinsGG | |
| ENST00000699930.1:c.1565_1566delinsGG | ENSP00000514695.1:p.Thr522Arg | |
| ENST00000699931.1:n.3101_3102delinsGG | ||
| ENST00000699951.1:c.*769_*770delinsGG | ENSP00000514706.1:n.*769_*770delinsGG | |
| ENST00000699952.1:c.803+10234_803+10235delinsGG | ENSP00000514707.1:n.803+10234_803+10235delinsGG | |
| ENST00000699953.1:c.*780_*781delinsGG | ENSP00000514708.1:n.*780_*781delinsGG | |
| ENST00000699954.1:c.*974_*975delinsGG | ENSP00000514709.1:n.*974_*975delinsGG | |
| ENST00000265849.12:c.1673_1674delinsGG MANE Select | ENSP00000265849.7:p.Thr558Arg | |
| ENST00000642292.1:c.1268_1269delinsGG | ENSP00000495524.1:p.Thr423Arg | |
| ENST00000642456.1:c.1268_1269delinsGG | ENSP00000493814.1:p.Thr423Arg | |
| ENST00000643595.1:c.*1072_*1073delinsGG | ENSP00000494497.1:n.*1072_*1073delinsGG | |
| ENST00000644110.1:c.1355_1356delinsGG | ENSP00000496392.1:p.Thr452Arg | |
| ENST00000265849.11:c.1673_1674delinsGG | ENSP00000265849.7:p.Thr558Arg | |
| ENST00000382321.5:c.804-4101_804-4100delinsGG | ENSP00000371758.4:n.804-4101_804-4100delinsGG | |
| ENST00000406569.7:n.1673_1674delinsGG | ||
| ENST00000441476.6:c.1355_1356delinsGG | ENSP00000392843.2:p.Thr452Arg | |
| ENST00000469652.1:n.63-4187_63-4186delinsGG | ||
| NM_000535.5:c.1673_1674delinsGG , LRG_161t1:c.1673_1674delinsGG | NP_000526.1:p.Thr558Arg | |
| NR_003085.2:n.1755_1756delinsGG | ||
| XM_006715742.2:c.1667_1668delinsGG | XP_006715805.1:p.Thr556Arg | |
| XM_006715744.2:c.740_741delinsGG | XP_006715807.1:p.Thr247Arg | |
| XM_011515427.1:c.1718_1719delinsGG | XP_011513729.1:p.Thr573Arg | |
| XM_011515428.1:c.1562_1563delinsGG | XP_011513730.1:p.Thr521Arg | |
| XM_011515429.1:c.1355_1356delinsGG | XP_011513731.1:p.Thr452Arg | |
| XM_011515430.1:c.1355_1356delinsGG | XP_011513732.1:p.Thr452Arg | |
| NM_000535.6:c.1673_1674delinsGG | NP_000526.2:p.Thr558Arg | |
| NM_001322003.1:c.1268_1269delinsGG | NP_001308932.1:p.Thr423Arg | |
| NM_001322004.1:c.1268_1269delinsGG | NP_001308933.1:p.Thr423Arg | |
| NM_001322005.1:c.1268_1269delinsGG | NP_001308934.1:p.Thr423Arg | |
| NM_001322006.1:c.1517_1518delinsGG | NP_001308935.1:p.Thr506Arg | |
| NM_001322007.1:c.1355_1356delinsGG | NP_001308936.1:p.Thr452Arg | |
| NM_001322008.1:c.1355_1356delinsGG | NP_001308937.1:p.Thr452Arg | |
| NM_001322009.1:c.1268_1269delinsGG | NP_001308938.1:p.Thr423Arg | |
| NM_001322010.1:c.1112_1113delinsGG | NP_001308939.1:p.Thr371Arg | |
| NM_001322011.1:c.740_741delinsGG | NP_001308940.1:p.Thr247Arg | |
| NM_001322012.1:c.740_741delinsGG | NP_001308941.1:p.Thr247Arg | |
| NM_001322013.1:c.1100_1101delinsGG | NP_001308942.1:p.Thr367Arg | |
| NM_001322014.1:c.1673_1674delinsGG | NP_001308943.1:p.Thr558Arg | |
| NM_001322015.1:c.1364_1365delinsGG | NP_001308944.1:p.Thr455Arg | |
| NR_136154.1:n.1760_1761delinsGG | ||
| XM_006715744.4:c.740_741delinsGG | XP_006715807.1:p.Thr247Arg | |
| XM_017012342.2:c.740_741delinsGG | XP_016867831.1:p.Thr247Arg | |
| XM_024446800.1:c.1112_1113delinsGG | XP_024302568.1:p.Thr371Arg | |
| NM_000535.7:c.1673_1674delinsGG MANE Select | NP_000526.2:p.Thr558Arg | |
| NM_001322003.2:c.1268_1269delinsGG | NP_001308932.1:p.Thr423Arg | |
| NM_001322004.2:c.1268_1269delinsGG | NP_001308933.1:p.Thr423Arg | |
| NM_001322005.2:c.1268_1269delinsGG | NP_001308934.1:p.Thr423Arg | |
| NM_001322006.2:c.1517_1518delinsGG | NP_001308935.1:p.Thr506Arg | |
| NM_001322008.2:c.1355_1356delinsGG | NP_001308937.1:p.Thr452Arg | |
| NM_001322009.2:c.1268_1269delinsGG | NP_001308938.1:p.Thr423Arg | |
| NM_001322010.2:c.1112_1113delinsGG | NP_001308939.1:p.Thr371Arg | |
| NM_001322011.2:c.740_741delinsGG | NP_001308940.1:p.Thr247Arg | |
| NM_001322012.2:c.740_741delinsGG | NP_001308941.1:p.Thr247Arg | |
| NM_001322013.2:c.1100_1101delinsGG | NP_001308942.1:p.Thr367Arg | |
| NM_001322014.2:c.1673_1674delinsGG | NP_001308943.1:p.Thr558Arg | |
| NM_001322015.2:c.1364_1365delinsGG | NP_001308944.1:p.Thr455Arg | |
| NM_001322007.2:c.1355_1356delinsGG | NP_001308936.1:p.Thr452Arg |