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.5986976_5986977delinsAC , CM000669.2:g.5986976_5986977delinsAC | GRCh38 |
| NC_000007.13:g.6026607_6026608delinsAC , CM000669.1:g.6026607_6026608delinsAC | GRCh37 |
| NC_000007.12:g.5993133_5993134delinsAC | NCBI36 |
| NG_008466.1:g.27130_27131delinsGT , LRG_161:g.27130_27131delinsGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*1184_*1185delinsGT | ENSP00000514615.2:n.*1184_*1185delinsGT | |
| ENST00000699840.2:c.1785_1786delinsGT | ENSP00000514638.2:p.Asn595_Thr596delinsLy... | |
| ENST00000699930.2:c.1680_1681delinsGT | ENSP00000514695.2:p.Asn560_Thr561delinsLy... | |
| ENST00000406569.8:c.1678+110_1678+111delinsGT | ENSP00000514464.1:n.1678+110_1678+111deli... | |
| ENST00000644110.2:c.*1382_*1383delinsGT | ENSP00000496392.2:n.*1382_*1383delinsGT | |
| ENST00000699752.1:c.1632_1633delinsGT | ENSP00000514561.1:p.Asn544_Thr545delinsLy... | |
| ENST00000699753.1:c.*1209_*1210delinsGT | ENSP00000514562.1:n.*1209_*1210delinsGT | |
| ENST00000699754.1:c.1590_1591delinsGT | ENSP00000514563.1:p.Asn530_Thr531delinsLy... | |
| ENST00000699755.1:c.*1187_*1188delinsGT | ENSP00000514564.1:n.*1187_*1188delinsGT | |
| ENST00000699756.1:c.*1375_*1376delinsGT | ENSP00000514565.1:n.*1375_*1376delinsGT | |
| ENST00000699757.1:c.*1045_*1046delinsGT | ENSP00000514566.1:n.*1045_*1046delinsGT | |
| ENST00000699758.1:c.*1045_*1046delinsGT | ENSP00000514567.1:n.*1045_*1046delinsGT | |
| ENST00000699759.1:n.2642_2643delinsGT | ||
| ENST00000699760.1:c.1470_1471delinsGT | ENSP00000514568.1:p.Asn490_Thr491delinsLy... | |
| ENST00000699761.1:c.1383_1384delinsGT | ENSP00000514569.1:p.Asn461_Thr462delinsLy... | |
| ENST00000699762.1:c.1215_1216delinsGT | ENSP00000514570.1:p.Asn405_Thr406delinsLy... | |
| ENST00000699763.1:c.*878_*879delinsGT | ENSP00000514571.1:n.*878_*879delinsGT | |
| ENST00000699764.1:c.*106_*107delinsGT | ENSP00000514572.1:n.*106_*107delinsGT | |
| ENST00000699765.1:c.*884_*885delinsGT | ENSP00000514573.1:n.*884_*885delinsGT | |
| ENST00000699766.1:c.1788_1789delinsGT | ENSP00000514574.1:p.Asn596_Thr597delinsLy... | |
| ENST00000699767.1:c.1788_1789delinsGT | ENSP00000514575.1:p.Asn596_Thr597delinsLy... | |
| ENST00000699768.1:c.1788_1789delinsGT | ENSP00000514576.1:p.Asn596_Thr597delinsLy... | |
| ENST00000699811.1:c.1383_1384delinsGT | ENSP00000514614.1:p.Asn461_Thr462delinsLy... | |
| ENST00000699813.1:n.1901_1902delinsGT | ||
| ENST00000699814.1:c.1411_1412delinsGT | ||
| ENST00000699815.1:c.*1319_*1320delinsGT | ENSP00000514616.1:n.*1319_*1320delinsGT | |
| ENST00000699816.1:c.*678_*679delinsGT | ENSP00000514617.1:n.*678_*679delinsGT | |
| ENST00000699817.1:c.*1382_*1383delinsGT | ENSP00000514618.1:n.*1382_*1383delinsGT | |
| ENST00000699818.1:c.1383_1384delinsGT | ENSP00000514619.1:p.Asn461_Thr462delinsLy... | |
| ENST00000699819.1:c.*945_*946delinsGT | ENSP00000514620.1:n.*945_*946delinsGT | |
| ENST00000699820.1:c.1144+2823_1144+2824delinsGT | ENSP00000514621.1:n.1144+2823_1144+2824de... | |
| ENST00000699821.1:c.1383_1384delinsGT | ENSP00000514622.1:p.Asn461_Thr462delinsLy... | |
| ENST00000699822.1:c.*1240_*1241delinsGT | ENSP00000514623.1:n.*1240_*1241delinsGT | |
| ENST00000699823.1:c.1383_1384delinsGT | ENSP00000514624.1:p.Asn461_Thr462delinsLy... | |
| ENST00000699824.1:c.*1291_*1292delinsGT | ENSP00000514625.1:n.*1291_*1292delinsGT | |
| ENST00000699825.1:c.1227_1228delinsGT | ENSP00000514626.1:p.Asn409_Thr410delinsLy... | |
| ENST00000699826.1:c.*1187_*1188delinsGT | ENSP00000514627.1:n.*1187_*1188delinsGT | |
| ENST00000699827.1:c.1620_1621delinsGT | ENSP00000514628.1:p.Asn540_Thr541delinsLy... | |
| ENST00000699828.1:c.*878_*879delinsGT | ENSP00000514629.1:n.*878_*879delinsGT | |
| ENST00000699833.1:n.3560_3561delinsGT | ||
| ENST00000699837.1:c.1383_1384delinsGT | ENSP00000514635.1:p.Asn461_Thr462delinsLy... | |
| ENST00000699838.1:c.*1688_*1689delinsGT | ENSP00000514636.1:n.*1688_*1689delinsGT | |
| ENST00000699839.1:c.1974_1975delinsGT | ENSP00000514637.1:p.Asn658_Thr659delinsLy... | |
| ENST00000699916.1:c.*1045_*1046delinsGT | ENSP00000514684.1:n.*1045_*1046delinsGT | |
| ENST00000699917.1:c.*1237_*1238delinsGT | ENSP00000514685.1:n.*1237_*1238delinsGT | |
| ENST00000699918.1:c.*1289_*1290delinsGT | ENSP00000514686.1:n.*1289_*1290delinsGT | |
| ENST00000699919.1:c.*1375_*1376delinsGT | ENSP00000514687.1:n.*1375_*1376delinsGT | |
| ENST00000699920.1:c.*1424_*1425delinsGT | ENSP00000514688.1:n.*1424_*1425delinsGT | |
| ENST00000699928.1:c.989-3986_989-3985delinsGT | ENSP00000514693.1:n.989-3986_989-3985deli... | |
| ENST00000699929.1:c.*1089_*1090delinsGT | ENSP00000514694.1:n.*1089_*1090delinsGT | |
| ENST00000699930.1:c.1680_1681delinsGT | ENSP00000514695.1:p.Asn560_Thr561delinsLy... | |
| ENST00000699931.1:n.3216_3217delinsGT | ||
| ENST00000699951.1:c.*884_*885delinsGT | ENSP00000514706.1:n.*884_*885delinsGT | |
| ENST00000699952.1:c.803+10349_803+10350delinsGT | ENSP00000514707.1:n.803+10349_803+10350de... | |
| ENST00000699953.1:c.*895_*896delinsGT | ENSP00000514708.1:n.*895_*896delinsGT | |
| ENST00000699954.1:c.*1089_*1090delinsGT | ENSP00000514709.1:n.*1089_*1090delinsGT | |
| ENST00000265849.12:c.1788_1789delinsGT MANE Select | ENSP00000265849.7:p.Asn596_Thr597delinsLy... | |
| ENST00000642292.1:c.1383_1384delinsGT | ENSP00000495524.1:p.Asn461_Thr462delinsLy... | |
| ENST00000642456.1:c.1383_1384delinsGT | ENSP00000493814.1:p.Asn461_Thr462delinsLy... | |
| ENST00000643595.1:c.*1187_*1188delinsGT | ENSP00000494497.1:n.*1187_*1188delinsGT | |
| ENST00000644110.1:c.1470_1471delinsGT | ENSP00000496392.1:p.Asn490_Thr491delinsLy... | |
| ENST00000265849.11:c.1788_1789delinsGT | ENSP00000265849.7:p.Asn596_Thr597delinsLy... | |
| ENST00000382321.5:c.804-3986_804-3985delinsGT | ENSP00000371758.4:n.804-3986_804-3985deli... | |
| ENST00000406569.7:n.1678+110_1678+111delinsGT | ||
| ENST00000441476.6:c.1470_1471delinsGT | ENSP00000392843.2:p.Asn490_Thr491delinsLy... | |
| ENST00000469652.1:n.63-4072_63-4071delinsGT | ||
| NM_000535.5:c.1788_1789delinsGT , LRG_161t1:c.1788_1789delinsGT | NP_000526.1:p.Asn596_Thr597delinsLysSer | |
| NR_003085.2:n.1870_1871delinsGT | ||
| XM_006715742.2:c.1782_1783delinsGT | XP_006715805.1:p.Asn594_Thr595delinsLysSe... | |
| XM_006715744.2:c.855_856delinsGT | XP_006715807.1:p.Asn285_Thr286delinsLysSe... | |
| XM_011515427.1:c.1833_1834delinsGT | XP_011513729.1:p.Asn611_Thr612delinsLysSe... | |
| XM_011515428.1:c.1677_1678delinsGT | XP_011513730.1:p.Asn559_Thr560delinsLysSe... | |
| XM_011515429.1:c.1470_1471delinsGT | XP_011513731.1:p.Asn490_Thr491delinsLysSe... | |
| XM_011515430.1:c.1470_1471delinsGT | XP_011513732.1:p.Asn490_Thr491delinsLysSe... | |
| NM_000535.6:c.1788_1789delinsGT | NP_000526.2:p.Asn596_Thr597delinsLysSer | |
| NM_001322003.1:c.1383_1384delinsGT | NP_001308932.1:p.Asn461_Thr462delinsLysSe... | |
| NM_001322004.1:c.1383_1384delinsGT | NP_001308933.1:p.Asn461_Thr462delinsLysSe... | |
| NM_001322005.1:c.1383_1384delinsGT | NP_001308934.1:p.Asn461_Thr462delinsLysSe... | |
| NM_001322006.1:c.1632_1633delinsGT | NP_001308935.1:p.Asn544_Thr545delinsLysSe... | |
| NM_001322007.1:c.1470_1471delinsGT | NP_001308936.1:p.Asn490_Thr491delinsLysSe... | |
| NM_001322008.1:c.1470_1471delinsGT | NP_001308937.1:p.Asn490_Thr491delinsLysSe... | |
| NM_001322009.1:c.1383_1384delinsGT | NP_001308938.1:p.Asn461_Thr462delinsLysSe... | |
| NM_001322010.1:c.1227_1228delinsGT | NP_001308939.1:p.Asn409_Thr410delinsLysSe... | |
| NM_001322011.1:c.855_856delinsGT | NP_001308940.1:p.Asn285_Thr286delinsLysSe... | |
| NM_001322012.1:c.855_856delinsGT | NP_001308941.1:p.Asn285_Thr286delinsLysSe... | |
| NM_001322013.1:c.1215_1216delinsGT | NP_001308942.1:p.Asn405_Thr406delinsLysSe... | |
| NM_001322014.1:c.1788_1789delinsGT | NP_001308943.1:p.Asn596_Thr597delinsLysSe... | |
| NM_001322015.1:c.1479_1480delinsGT | NP_001308944.1:p.Asn493_Thr494delinsLysSe... | |
| NR_136154.1:n.1875_1876delinsGT | ||
| XM_006715744.4:c.855_856delinsGT | XP_006715807.1:p.Asn285_Thr286delinsLysSe... | |
| XM_017012342.2:c.855_856delinsGT | XP_016867831.1:p.Asn285_Thr286delinsLysSe... | |
| XM_024446800.1:c.1227_1228delinsGT | XP_024302568.1:p.Asn409_Thr410delinsLysSe... | |
| NM_000535.7:c.1788_1789delinsGT MANE Select | NP_000526.2:p.Asn596_Thr597delinsLysSer | |
| NM_001322003.2:c.1383_1384delinsGT | NP_001308932.1:p.Asn461_Thr462delinsLysSe... | |
| NM_001322004.2:c.1383_1384delinsGT | NP_001308933.1:p.Asn461_Thr462delinsLysSe... | |
| NM_001322005.2:c.1383_1384delinsGT | NP_001308934.1:p.Asn461_Thr462delinsLysSe... | |
| NM_001322006.2:c.1632_1633delinsGT | NP_001308935.1:p.Asn544_Thr545delinsLysSe... | |
| NM_001322008.2:c.1470_1471delinsGT | NP_001308937.1:p.Asn490_Thr491delinsLysSe... | |
| NM_001322009.2:c.1383_1384delinsGT | NP_001308938.1:p.Asn461_Thr462delinsLysSe... | |
| NM_001322010.2:c.1227_1228delinsGT | NP_001308939.1:p.Asn409_Thr410delinsLysSe... | |
| NM_001322011.2:c.855_856delinsGT | NP_001308940.1:p.Asn285_Thr286delinsLysSe... | |
| NM_001322012.2:c.855_856delinsGT | NP_001308941.1:p.Asn285_Thr286delinsLysSe... | |
| NM_001322013.2:c.1215_1216delinsGT | NP_001308942.1:p.Asn405_Thr406delinsLysSe... | |
| NM_001322014.2:c.1788_1789delinsGT | NP_001308943.1:p.Asn596_Thr597delinsLysSe... | |
| NM_001322015.2:c.1479_1480delinsGT | NP_001308944.1:p.Asn493_Thr494delinsLysSe... | |
| NM_001322007.2:c.1470_1471delinsGT | NP_001308936.1:p.Asn490_Thr491delinsLysSe... |