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_000006.12:g.85547114_85547118delinsACAGT , CM000668.2:g.85547114_85547118delinsACAGT | GRCh38 |
| NC_000006.11:g.86256832_86256836delinsACAGT , CM000668.1:g.86256832_86256836delinsACAGT | GRCh37 |
| NC_000006.10:g.86313551_86313555delinsACAGT | NCBI36 |
| NG_047171.1:g.52039_52043delinsACTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369635.7:c.970_974delinsACTGT | ENSP00000358649.3:p.Thr324= | |
| ENST00000508658.6:c.1102_1106delinsACTGT | ENSP00000422814.2:p.Thr368= | |
| ENST00000509338.6:c.1102_1106delinsACTGT | ENSP00000424302.2:p.Thr368= | |
| ENST00000513869.2:c.*465_*467+2delinsACTGT | ||
| ENST00000514419.6:c.*933_*937delinsACTGT | ENSP00000425387.2:n.*933_*937delinsACTGT | |
| ENST00000515216.6:c.1102_1106delinsACTGT | ENSP00000425630.2:p.Thr368= | |
| ENST00000681965.1:c.2240_2244delinsACTGT | ENSP00000507317.1:n.2240_2244delinsACTGT | |
| ENST00000681981.1:c.1102_1106delinsACTGT | ENSP00000507672.1:p.Thr368= | |
| ENST00000682022.1:c.*994_*998delinsACTGT | ENSP00000508118.1:n.*994_*998delinsACTGT | |
| ENST00000682023.1:c.*725_*729delinsACTGT | ENSP00000507998.1:n.*725_*729delinsACTGT | |
| ENST00000682034.1:c.*275+388_*275+392delinsACTGT | ENSP00000506724.1:n.*275+388_*275+392delinsACTGT | |
| ENST00000682057.1:c.*531_*535delinsACTGT | ENSP00000507883.1:n.*531_*535delinsACTGT | |
| ENST00000682083.1:c.*1012_*1016delinsACTGT | ENSP00000506859.1:n.*1012_*1016delinsACTGT | |
| ENST00000682106.1:n.3628_3632delinsACTGT | ||
| ENST00000682133.1:c.1099_1103delinsACTGT | ENSP00000507001.1:p.Thr367= | |
| ENST00000682168.1:n.1281_1285delinsACTGT | ||
| ENST00000682171.1:c.943_947delinsACTGT | ENSP00000508327.1:p.Thr315= | |
| ENST00000682174.1:c.*725_*729delinsACTGT | ENSP00000507248.1:n.*725_*729delinsACTGT | |
| ENST00000682374.1:c.1099_1103delinsACTGT | ENSP00000507425.1:p.Thr367= | |
| ENST00000682412.1:c.942_946delinsACTGT | ENSP00000507297.1:n.942_946delinsACTGT | |
| ENST00000682454.1:c.*465_*469delinsACTGT | ENSP00000507851.1:n.*465_*469delinsACTGT | |
| ENST00000682455.1:c.1102_1106delinsACTGT | ENSP00000507586.1:p.Thr368= | |
| ENST00000682464.1:c.1102_1106delinsACTGT | ENSP00000507625.1:p.Thr368= | |
| ENST00000682491.1:c.814_818delinsACTGT | ENSP00000506970.1:p.Thr272= | |
| ENST00000682497.1:c.1099_1103delinsACTGT | ENSP00000507869.1:p.Thr367= | |
| ENST00000682504.1:c.*1012_*1014+2delinsACTGT | ||
| ENST00000682514.1:n.1149_1153delinsACTGT | ||
| ENST00000682594.1:n.1166_1170delinsACTGT | ||
| ENST00000682633.1:c.943_947delinsACTGT | ENSP00000507843.1:p.Thr315= | |
| ENST00000682660.1:c.1102_1106delinsACTGT | ENSP00000507539.1:p.Thr368= | |
| ENST00000682682.1:c.1102_1106delinsACTGT | ENSP00000507777.1:p.Thr368= | |
| ENST00000682688.1:c.1102_1104+2delinsACTGT | ||
| ENST00000682694.1:c.*465_*469delinsACTGT | ENSP00000507387.1:n.*465_*469delinsACTGT | |
| ENST00000682709.1:n.1281_1285delinsACTGT | ||
| ENST00000682738.1:c.1102_1106delinsACTGT | ENSP00000507742.1:p.Thr368= | |
| ENST00000682776.1:c.946_948+2delinsACTGT | ||
| ENST00000682854.1:c.*1090_*1094delinsACTGT | ENSP00000507257.1:n.*1090_*1094delinsACTGT | |
| ENST00000682878.1:c.*790_*794delinsACTGT | ENSP00000507360.1:n.*790_*794delinsACTGT | |
| ENST00000682939.1:c.814_818delinsACTGT | ENSP00000506902.1:p.Thr272= | |
| ENST00000682991.1:c.1102_1106delinsACTGT | ENSP00000508193.1:p.Thr368= | |
| ENST00000682995.1:c.946_948+2delinsACTGT | ||
| ENST00000683073.1:c.1102_1106delinsACTGT | ENSP00000507270.1:p.Thr368= | |
| ENST00000683074.1:c.*1012_*1016delinsACTGT | ENSP00000507008.1:n.*1012_*1016delinsACTGT | |
| ENST00000683085.1:c.1102_1106delinsACTGT | ENSP00000507993.1:p.Thr368= | |
| ENST00000683097.1:c.1102_1106delinsACTGT | ENSP00000507556.1:p.Thr368= | |
| ENST00000683126.1:c.*622_*626delinsACTGT | ENSP00000507507.1:n.*622_*626delinsACTGT | |
| ENST00000683195.1:c.*465_*469delinsACTGT | ENSP00000508190.1:n.*465_*469delinsACTGT | |
| ENST00000683196.1:c.*465_*469delinsACTGT | ENSP00000508297.1:n.*465_*469delinsACTGT | |
| ENST00000683364.1:c.*984_*988delinsACTGT | ENSP00000507791.1:n.*984_*988delinsACTGT | |
| ENST00000683436.1:c.*1012_*1016delinsACTGT | ENSP00000506874.1:n.*1012_*1016delinsACTGT | |
| ENST00000683458.1:c.970_972+2delinsACTGT | ||
| ENST00000683473.1:n.1281_1285delinsACTGT | ||
| ENST00000683479.1:c.1102_1106delinsACTGT | ENSP00000507368.1:p.Thr368= | |
| ENST00000683481.1:c.1102_1106delinsACTGT | ENSP00000507015.1:p.Thr368= | |
| ENST00000683541.1:c.1099_1103delinsACTGT | ENSP00000507116.1:p.Thr367= | |
| ENST00000683542.1:c.*626_*630delinsACTGT | ENSP00000506893.1:n.*626_*630delinsACTGT | |
| ENST00000683577.1:c.970_974delinsACTGT | ENSP00000507516.1:p.Thr324= | |
| ENST00000683583.1:c.1102_1106delinsACTGT | ENSP00000507244.1:p.Thr368= | |
| ENST00000683643.1:c.970_974delinsACTGT | ENSP00000507444.1:p.Thr324= | |
| ENST00000683698.1:c.*622_*624+2delinsACTGT | ||
| ENST00000683726.1:c.*626_*628+2delinsACTGT | ||
| ENST00000683754.1:c.1021_1025delinsACTGT | ENSP00000507707.1:p.Thr341= | |
| ENST00000683759.1:n.1281_1285delinsACTGT | ||
| ENST00000683785.1:c.967_971delinsACTGT | ENSP00000507188.1:p.Thr323= | |
| ENST00000683803.1:c.1102_1104+2delinsACTGT | ||
| ENST00000683857.1:c.*531_*535delinsACTGT | ENSP00000508015.1:n.*531_*535delinsACTGT | |
| ENST00000683873.1:c.*677_*681delinsACTGT | ENSP00000506829.1:n.*677_*681delinsACTGT | |
| ENST00000683878.1:c.*383_*387delinsACTGT | ENSP00000507449.1:n.*383_*387delinsACTGT | |
| ENST00000683880.1:c.*626_*630delinsACTGT | ENSP00000508357.1:n.*626_*630delinsACTGT | |
| ENST00000683898.1:c.937_941delinsACTGT | ENSP00000506897.1:p.Thr313= | |
| ENST00000683909.1:n.3144_3148delinsACTGT | ||
| ENST00000683999.1:n.1159_1163delinsACTGT | ||
| ENST00000684017.1:n.874_878delinsACTGT | ||
| ENST00000684108.1:n.1281_1285delinsACTGT | ||
| ENST00000684118.1:c.1099_1103delinsACTGT | ENSP00000507950.1:p.Thr367= | |
| ENST00000684150.1:c.943_947delinsACTGT | ENSP00000507401.1:p.Thr315= | |
| ENST00000684220.1:c.*984_*988delinsACTGT | ENSP00000507382.1:n.*984_*988delinsACTGT | |
| ENST00000684239.1:c.*727_*731delinsACTGT | ENSP00000507479.1:n.*727_*731delinsACTGT | |
| ENST00000684273.1:c.*599_*601+2delinsACTGT | ||
| ENST00000684281.1:c.970_974delinsACTGT | ENSP00000507932.1:p.Thr324= | |
| ENST00000684299.1:c.946_950delinsACTGT | ENSP00000507637.1:p.Thr316= | |
| ENST00000684319.1:c.1102_1106delinsACTGT | ENSP00000508346.1:p.Thr368= | |
| ENST00000684422.1:c.*775_*779delinsACTGT | ENSP00000507146.1:n.*775_*779delinsACTGT | |
| ENST00000684451.1:c.*626_*630delinsACTGT | ENSP00000507384.1:n.*626_*630delinsACTGT | |
| ENST00000684462.1:c.*1012_*1016delinsACTGT | ENSP00000507581.1:n.*1012_*1016delinsACTGT | |
| ENST00000684570.1:c.1165_1169delinsACTGT | ENSP00000508127.1:p.Thr389= | |
| ENST00000684581.1:c.1099_1103delinsACTGT | ENSP00000507294.1:p.Thr367= | |
| ENST00000684647.1:c.811_815delinsACTGT | ENSP00000506873.1:p.Thr271= | |
| ENST00000684680.1:c.946_950delinsACTGT | ENSP00000507491.1:p.Thr316= | |
| ENST00000684717.1:c.1102_1106delinsACTGT | ENSP00000507024.1:p.Thr368= | |
| ENST00000314673.8:c.1102_1106delinsACTGT MANE Select | ENSP00000313121.3:p.Thr368= | |
| ENST00000314673.7:c.1102_1106delinsACTGT | ENSP00000313121.3:p.Thr368= | |
| ENST00000346348.7:c.970_974delinsACTGT | ENSP00000257769.3:p.Thr324= | |
| ENST00000369627.6:c.1102_1106delinsACTGT | ENSP00000358641.2:p.Thr368= | |
| ENST00000369635.6:c.*465_*469delinsACTGT | ENSP00000358649.2:n.*465_*469delinsACTGT | |
| ENST00000503491.5:n.1591_1595delinsACTGT | ||
| ENST00000505648.5:c.946_950delinsACTGT | ENSP00000427380.1:p.Thr316= | |
| ENST00000508980.5:n.1739_1741+2delinsACTGT | ||
| ENST00000513865.5:c.1102_1106delinsACTGT | ENSP00000420938.1:p.Thr368= | |
| ENST00000515216.5:c.883_887delinsACTGT | ENSP00000425630.1:p.Thr295= | |
| NM_001297614.2:c.1102_1106delinsACTGT | NP_001284543.1:p.Thr368= | |
| NM_001304479.1:c.946_950delinsACTGT | NP_001291408.1:p.Thr316= | |
| NM_020468.5:c.970_974delinsACTGT | NP_065201.1:p.Thr324= | |
| NM_153816.5:c.1102_1106delinsACTGT | NP_722523.1:p.Thr368= | |
| XM_005248738.3:c.1099_1103delinsACTGT | XP_005248795.1:p.Thr367= | |
| XM_005248740.3:c.970_974delinsACTGT | XP_005248797.1:p.Thr324= | |
| XM_011535977.1:c.946_950delinsACTGT | XP_011534279.1:p.Thr316= | |
| XM_011535978.1:c.883_887delinsACTGT | XP_011534280.1:p.Thr295= | |
| XM_011535979.1:c.814_818delinsACTGT | XP_011534281.1:p.Thr272= | |
| XM_011535980.1:c.-50_-48+2delinsACTGT | ||
| XR_942523.1:n.956_960delinsACTGT | ||
| NM_001350532.1:c.1165_1169delinsACTGT | NP_001337461.1:p.Thr389= | |
| NM_001350533.1:c.1099_1103delinsACTGT | NP_001337462.1:p.Thr367= | |
| NM_001350534.1:c.1099_1103delinsACTGT | NP_001337463.1:p.Thr367= | |
| NM_001350535.1:c.1099_1103delinsACTGT | NP_001337464.1:p.Thr367= | |
| NM_001350536.1:c.970_974delinsACTGT | NP_001337465.1:p.Thr324= | |
| NM_001350537.1:c.967_971delinsACTGT | NP_001337466.1:p.Thr323= | |
| NM_001350538.1:c.958_962delinsACTGT | NP_001337467.1:p.Thr320= | |
| NM_001350539.1:c.943_947delinsACTGT | NP_001337468.1:p.Thr315= | |
| NM_001350540.1:c.1102_1106delinsACTGT | NP_001337469.1:p.Thr368= | |
| NM_001350541.1:c.1102_1106delinsACTGT | NP_001337470.1:p.Thr368= | |
| NM_001350542.1:c.814_818delinsACTGT | NP_001337471.1:p.Thr272= | |
| NM_001350543.1:c.811_815delinsACTGT | NP_001337472.1:p.Thr271= | |
| NM_001350544.1:c.802_806delinsACTGT | NP_001337473.1:p.Thr268= | |
| NM_001350545.1:c.658_662delinsACTGT | NP_001337474.1:p.Thr220= | |
| NM_001350546.1:c.658_662delinsACTGT | NP_001337475.1:p.Thr220= | |
| NM_001350547.1:c.52_56delinsACTGT | NP_001337476.1:p.Thr18= | |
| NM_001350548.1:c.-50_-48+2delinsACTGT | ||
| NM_001350549.1:c.-50_-48+2delinsACTGT | ||
| NM_001350550.1:c.-50_-48+2delinsACTGT | ||
| NM_001350551.1:c.-50_-48+2delinsACTGT | ||
| NM_001350552.1:c.-82_-78delinsACTGT | NP_001337481.1:n.-82_-78delinsACTGT | |
| NM_001350553.1:c.-50_-48+2delinsACTGT | ||
| NR_146774.1:n.1282_1286delinsACTGT | ||
| NR_146775.1:n.1285_1289delinsACTGT | ||
| NR_146776.1:n.1408_1412delinsACTGT | ||
| NR_146777.1:n.1540_1542+2delinsACTGT | ||
| NR_146778.1:n.1540_1544delinsACTGT | ||
| NR_146779.1:n.1537_1541delinsACTGT | ||
| XM_011535977.2:c.946_950delinsACTGT | XP_011534279.1:p.Thr316= | |
| XM_017011090.1:c.943_947delinsACTGT | XP_016866579.1:p.Thr315= | |
| XM_024446498.1:c.811_815delinsACTGT | XP_024302266.1:p.Thr271= | |
| XM_024446499.1:c.-82_-78delinsACTGT | XP_024302267.1:n.-82_-78delinsACTGT | |
| NM_153816.6:c.1102_1106delinsACTGT MANE Select | NP_722523.1:p.Thr368= | |
| NM_001297614.3:c.1102_1106delinsACTGT | NP_001284543.1:p.Thr368= | |
| NM_001304479.2:c.946_950delinsACTGT | NP_001291408.1:p.Thr316= | |
| NM_001350532.2:c.1165_1169delinsACTGT | NP_001337461.1:p.Thr389= | |
| NM_001350533.2:c.1099_1103delinsACTGT | NP_001337462.1:p.Thr367= | |
| NM_001350534.2:c.1099_1103delinsACTGT | NP_001337463.1:p.Thr367= | |
| NM_001350535.2:c.1099_1103delinsACTGT | NP_001337464.1:p.Thr367= | |
| NM_001350536.2:c.970_974delinsACTGT | NP_001337465.1:p.Thr324= | |
| NM_001350537.2:c.967_971delinsACTGT | NP_001337466.1:p.Thr323= | |
| NM_001350538.2:c.958_962delinsACTGT | NP_001337467.1:p.Thr320= | |
| NM_001350539.2:c.943_947delinsACTGT | NP_001337468.1:p.Thr315= | |
| NM_001350540.2:c.1102_1106delinsACTGT | NP_001337469.1:p.Thr368= | |
| NM_001350541.2:c.1102_1106delinsACTGT | NP_001337470.1:p.Thr368= | |
| NM_001350542.2:c.814_818delinsACTGT | NP_001337471.1:p.Thr272= | |
| NM_001350543.2:c.811_815delinsACTGT | NP_001337472.1:p.Thr271= | |
| NM_001350544.2:c.802_806delinsACTGT | NP_001337473.1:p.Thr268= | |
| NM_001350545.2:c.658_662delinsACTGT | NP_001337474.1:p.Thr220= | |
| NM_001350546.2:c.658_662delinsACTGT | NP_001337475.1:p.Thr220= | |
| NM_001350547.2:c.52_56delinsACTGT | NP_001337476.1:p.Thr18= | |
| NM_001350548.2:c.-50_-48+2delinsACTGT | ||
| NM_001350549.2:c.-50_-48+2delinsACTGT | ||
| NM_001350550.2:c.-50_-48+2delinsACTGT | ||
| NM_001350551.2:c.-50_-48+2delinsACTGT | ||
| NM_001350552.2:c.-82_-78delinsACTGT | NP_001337481.1:n.-82_-78delinsACTGT | |
| NM_001350553.2:c.-50_-48+2delinsACTGT | ||
| NM_020468.6:c.970_974delinsACTGT | NP_065201.1:p.Thr324= | |
| NR_146774.2:n.984_988delinsACTGT | ||
| NR_146775.2:n.987_991delinsACTGT | ||
| NR_146776.2:n.1110_1114delinsACTGT | ||
| NR_146777.2:n.1242_1244+2delinsACTGT | ||
| NR_146778.2:n.1242_1246delinsACTGT | ||
| NR_146779.2:n.1239_1243delinsACTGT |