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.5987060_5987090delinsCT , CM000669.2:g.5987060_5987090delinsCT | GRCh38 |
| NC_000007.13:g.6026691_6026721delinsCT , CM000669.1:g.6026691_6026721delinsCT | GRCh37 |
| NC_000007.12:g.5993217_5993247delinsCT | NCBI36 |
| NG_008466.1:g.27017_27047delinsAG , LRG_161:g.27017_27047delinsAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*1071_*1101delinsAG | ENSP00000514615.2:n.*1071_*1101delinsAG | |
| ENST00000699840.2:c.1672_1702delinsAG | ENSP00000514638.2:p.Gly558SerfsTer2 | |
| ENST00000699930.2:c.1567_1597delinsAG | ENSP00000514695.2:p.Gly523SerfsTer2 | |
| ENST00000406569.8:c.1675_1678+27delinsAG | ||
| ENST00000644110.2:c.*1269_*1299delinsAG | ENSP00000496392.2:n.*1269_*1299delinsAG | |
| ENST00000699752.1:c.1519_1549delinsAG | ENSP00000514561.1:p.Gly507SerfsTer2 | |
| ENST00000699753.1:c.*1096_*1126delinsAG | ENSP00000514562.1:n.*1096_*1126delinsAG | |
| ENST00000699754.1:c.1477_1507delinsAG | ENSP00000514563.1:p.Gly493SerfsTer2 | |
| ENST00000699755.1:c.*1074_*1104delinsAG | ENSP00000514564.1:n.*1074_*1104delinsAG | |
| ENST00000699756.1:c.*1262_*1292delinsAG | ENSP00000514565.1:n.*1262_*1292delinsAG | |
| ENST00000699757.1:c.*932_*962delinsAG | ENSP00000514566.1:n.*932_*962delinsAG | |
| ENST00000699758.1:c.*932_*962delinsAG | ENSP00000514567.1:n.*932_*962delinsAG | |
| ENST00000699759.1:n.2529_2559delinsAG | ||
| ENST00000699760.1:c.1357_1387delinsAG | ENSP00000514568.1:p.Gly453SerfsTer2 | |
| ENST00000699761.1:c.1270_1300delinsAG | ENSP00000514569.1:p.Gly424SerfsTer2 | |
| ENST00000699762.1:c.1102_1132delinsAG | ENSP00000514570.1:p.Gly368SerfsTer2 | |
| ENST00000699763.1:c.*765_*795delinsAG | ENSP00000514571.1:n.*765_*795delinsAG | |
| ENST00000699764.1:c.1586_*23delinsAG | ENSP00000514572.1:n.[c.1586_*23delinsAG;A... | |
| ENST00000699765.1:c.*771_*801delinsAG | ENSP00000514573.1:n.*771_*801delinsAG | |
| ENST00000699766.1:c.1675_1705delinsAG | ENSP00000514574.1:p.Gly559SerfsTer2 | |
| ENST00000699767.1:c.1675_1705delinsAG | ENSP00000514575.1:p.Gly559SerfsTer2 | |
| ENST00000699768.1:c.1675_1705delinsAG | ENSP00000514576.1:p.Gly559SerfsTer2 | |
| ENST00000699811.1:c.1270_1300delinsAG | ENSP00000514614.1:p.Gly424SerfsTer2 | |
| ENST00000699813.1:n.1788_1818delinsAG | ||
| ENST00000699814.1:c.1298_1328delinsAG | ||
| ENST00000699815.1:c.*1206_*1236delinsAG | ENSP00000514616.1:n.*1206_*1236delinsAG | |
| ENST00000699816.1:c.*565_*595delinsAG | ENSP00000514617.1:n.*565_*595delinsAG | |
| ENST00000699817.1:c.*1269_*1299delinsAG | ENSP00000514618.1:n.*1269_*1299delinsAG | |
| ENST00000699818.1:c.1270_1300delinsAG | ENSP00000514619.1:p.Gly424SerfsTer2 | |
| ENST00000699819.1:c.*832_*862delinsAG | ENSP00000514620.1:n.*832_*862delinsAG | |
| ENST00000699820.1:c.1144+2710_1144+2740delinsAG | ENSP00000514621.1:n.1144+2710_1144+2740de... | |
| ENST00000699821.1:c.1270_1300delinsAG | ENSP00000514622.1:p.Gly424SerfsTer2 | |
| ENST00000699822.1:c.*1127_*1157delinsAG | ENSP00000514623.1:n.*1127_*1157delinsAG | |
| ENST00000699823.1:c.1270_1300delinsAG | ENSP00000514624.1:p.Gly424SerfsTer2 | |
| ENST00000699824.1:c.*1178_*1208delinsAG | ENSP00000514625.1:n.*1178_*1208delinsAG | |
| ENST00000699825.1:c.1114_1144delinsAG | ENSP00000514626.1:p.Gly372SerfsTer2 | |
| ENST00000699826.1:c.*1074_*1104delinsAG | ENSP00000514627.1:n.*1074_*1104delinsAG | |
| ENST00000699827.1:c.1507_1537delinsAG | ENSP00000514628.1:p.Gly503SerfsTer2 | |
| ENST00000699828.1:c.*765_*795delinsAG | ENSP00000514629.1:n.*765_*795delinsAG | |
| ENST00000699833.1:n.3447_3477delinsAG | ||
| ENST00000699837.1:c.1270_1300delinsAG | ENSP00000514635.1:p.Gly424SerfsTer2 | |
| ENST00000699838.1:c.*1575_*1605delinsAG | ENSP00000514636.1:n.*1575_*1605delinsAG | |
| ENST00000699839.1:c.1861_1891delinsAG | ENSP00000514637.1:p.Gly621SerfsTer2 | |
| ENST00000699916.1:c.*932_*962delinsAG | ENSP00000514684.1:n.*932_*962delinsAG | |
| ENST00000699917.1:c.*1124_*1154delinsAG | ENSP00000514685.1:n.*1124_*1154delinsAG | |
| ENST00000699918.1:c.*1176_*1206delinsAG | ENSP00000514686.1:n.*1176_*1206delinsAG | |
| ENST00000699919.1:c.*1262_*1292delinsAG | ENSP00000514687.1:n.*1262_*1292delinsAG | |
| ENST00000699920.1:c.*1311_*1341delinsAG | ENSP00000514688.1:n.*1311_*1341delinsAG | |
| ENST00000699928.1:c.989-4099_989-4069delinsAG | ENSP00000514693.1:n.989-4099_989-4069deli... | |
| ENST00000699929.1:c.*976_*1006delinsAG | ENSP00000514694.1:n.*976_*1006delinsAG | |
| ENST00000699930.1:c.1567_1597delinsAG | ENSP00000514695.1:p.Gly523SerfsTer2 | |
| ENST00000699931.1:n.3103_3133delinsAG | ||
| ENST00000699951.1:c.*771_*801delinsAG | ENSP00000514706.1:n.*771_*801delinsAG | |
| ENST00000699952.1:c.803+10236_803+10266delinsAG | ENSP00000514707.1:n.803+10236_803+10266de... | |
| ENST00000699953.1:c.*782_*812delinsAG | ENSP00000514708.1:n.*782_*812delinsAG | |
| ENST00000699954.1:c.*976_*1006delinsAG | ENSP00000514709.1:n.*976_*1006delinsAG | |
| ENST00000265849.12:c.1675_1705delinsAG MANE Select | ENSP00000265849.7:p.Gly559SerfsTer2 | |
| ENST00000642292.1:c.1270_1300delinsAG | ENSP00000495524.1:p.Gly424SerfsTer2 | |
| ENST00000642456.1:c.1270_1300delinsAG | ENSP00000493814.1:p.Gly424SerfsTer2 | |
| ENST00000643595.1:c.*1074_*1104delinsAG | ENSP00000494497.1:n.*1074_*1104delinsAG | |
| ENST00000644110.1:c.1357_1387delinsAG | ENSP00000496392.1:p.Gly453SerfsTer2 | |
| ENST00000265849.11:c.1675_1705delinsAG | ENSP00000265849.7:p.Gly559SerfsTer2 | |
| ENST00000382321.5:c.804-4099_804-4069delinsAG | ENSP00000371758.4:n.804-4099_804-4069deli... | |
| ENST00000406569.7:n.1675_1678+27delinsAG | ||
| ENST00000441476.6:c.1357_1387delinsAG | ENSP00000392843.2:p.Gly453SerfsTer2 | |
| ENST00000469652.1:n.63-4185_63-4155delinsAG | ||
| NM_000535.5:c.1675_1705delinsAG , LRG_161t1:c.1675_1705delinsAG | NP_000526.1:p.Gly559SerfsTer2 | |
| NR_003085.2:n.1757_1787delinsAG | ||
| XM_006715742.2:c.1669_1699delinsAG | XP_006715805.1:p.Gly557SerfsTer2 | |
| XM_006715744.2:c.742_772delinsAG | XP_006715807.1:p.Gly248SerfsTer2 | |
| XM_011515427.1:c.1720_1750delinsAG | XP_011513729.1:p.Gly574SerfsTer2 | |
| XM_011515428.1:c.1564_1594delinsAG | XP_011513730.1:p.Gly522SerfsTer2 | |
| XM_011515429.1:c.1357_1387delinsAG | XP_011513731.1:p.Gly453SerfsTer2 | |
| XM_011515430.1:c.1357_1387delinsAG | XP_011513732.1:p.Gly453SerfsTer2 | |
| NM_000535.6:c.1675_1705delinsAG | NP_000526.2:p.Gly559SerfsTer2 | |
| NM_001322003.1:c.1270_1300delinsAG | NP_001308932.1:p.Gly424SerfsTer2 | |
| NM_001322004.1:c.1270_1300delinsAG | NP_001308933.1:p.Gly424SerfsTer2 | |
| NM_001322005.1:c.1270_1300delinsAG | NP_001308934.1:p.Gly424SerfsTer2 | |
| NM_001322006.1:c.1519_1549delinsAG | NP_001308935.1:p.Gly507SerfsTer2 | |
| NM_001322007.1:c.1357_1387delinsAG | NP_001308936.1:p.Gly453SerfsTer2 | |
| NM_001322008.1:c.1357_1387delinsAG | NP_001308937.1:p.Gly453SerfsTer2 | |
| NM_001322009.1:c.1270_1300delinsAG | NP_001308938.1:p.Gly424SerfsTer2 | |
| NM_001322010.1:c.1114_1144delinsAG | NP_001308939.1:p.Gly372SerfsTer2 | |
| NM_001322011.1:c.742_772delinsAG | NP_001308940.1:p.Gly248SerfsTer2 | |
| NM_001322012.1:c.742_772delinsAG | NP_001308941.1:p.Gly248SerfsTer2 | |
| NM_001322013.1:c.1102_1132delinsAG | NP_001308942.1:p.Gly368SerfsTer2 | |
| NM_001322014.1:c.1675_1705delinsAG | NP_001308943.1:p.Gly559SerfsTer2 | |
| NM_001322015.1:c.1366_1396delinsAG | NP_001308944.1:p.Gly456SerfsTer2 | |
| NR_136154.1:n.1762_1792delinsAG | ||
| XM_006715744.4:c.742_772delinsAG | XP_006715807.1:p.Gly248SerfsTer2 | |
| XM_017012342.2:c.742_772delinsAG | XP_016867831.1:p.Gly248SerfsTer2 | |
| XM_024446800.1:c.1114_1144delinsAG | XP_024302568.1:p.Gly372SerfsTer2 | |
| NM_000535.7:c.1675_1705delinsAG MANE Select | NP_000526.2:p.Gly559SerfsTer2 | |
| NM_001322003.2:c.1270_1300delinsAG | NP_001308932.1:p.Gly424SerfsTer2 | |
| NM_001322004.2:c.1270_1300delinsAG | NP_001308933.1:p.Gly424SerfsTer2 | |
| NM_001322005.2:c.1270_1300delinsAG | NP_001308934.1:p.Gly424SerfsTer2 | |
| NM_001322006.2:c.1519_1549delinsAG | NP_001308935.1:p.Gly507SerfsTer2 | |
| NM_001322008.2:c.1357_1387delinsAG | NP_001308937.1:p.Gly453SerfsTer2 | |
| NM_001322009.2:c.1270_1300delinsAG | NP_001308938.1:p.Gly424SerfsTer2 | |
| NM_001322010.2:c.1114_1144delinsAG | NP_001308939.1:p.Gly372SerfsTer2 | |
| NM_001322011.2:c.742_772delinsAG | NP_001308940.1:p.Gly248SerfsTer2 | |
| NM_001322012.2:c.742_772delinsAG | NP_001308941.1:p.Gly248SerfsTer2 | |
| NM_001322013.2:c.1102_1132delinsAG | NP_001308942.1:p.Gly368SerfsTer2 | |
| NM_001322014.2:c.1675_1705delinsAG | NP_001308943.1:p.Gly559SerfsTer2 | |
| NM_001322015.2:c.1366_1396delinsAG | NP_001308944.1:p.Gly456SerfsTer2 | |
| NM_001322007.2:c.1357_1387delinsAG | NP_001308936.1:p.Gly453SerfsTer2 |