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_000018.10:g.55228987_55228989del , CM000680.2:g.55228987_55228989del | GRCh38 |
| NC_000018.9:g.52896218_52896220del , CM000680.1:g.52896218_52896220del | GRCh37 |
| NC_000018.8:g.51047216_51047218del | NCBI36 |
| NG_011716.1:g.364642_364644del | |
| NG_011716.2:g.412006_412008del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354452.8:c.1738_1740del MANE Select | ENSP00000346440.3:p.Arg580del | |
| ENST00000635822.2:c.1618_1620del | ENSP00000490451.1:p.Arg540del | |
| ENST00000635990.2:n.1418_1420del | ||
| ENST00000636400.2:c.1666_1668del | ENSP00000490006.1:p.Arg556del | |
| ENST00000636751.2:c.*1446_*1448del | ENSP00000489783.1:n.*1446_*1448del | |
| ENST00000636822.2:c.1348_1350del | ENSP00000490883.1:p.Arg450del | |
| ENST00000637115.2:c.*1616_*1618del | ENSP00000490234.1:n.*1616_*1618del | |
| ENST00000637169.2:c.1090_1092del | ENSP00000490832.1:p.Arg364del | |
| ENST00000637239.2:n.1793_1795del | ||
| ENST00000637250.2:n.1432_1434del | ||
| ENST00000637923.2:c.1336_1338del | ||
| ENST00000638154.3:c.1765_1767del | ENSP00000490625.2:p.Arg589del | |
| ENST00000643689.1:c.1348_1350del | ENSP00000494380.1:p.Arg450del | |
| ENST00000674764.1:c.*1349_*1351del | ENSP00000502213.1:n.*1349_*1351del | |
| ENST00000675707.1:c.1348_1350del | ENSP00000501758.1:p.Arg450del | |
| ENST00000354452.7:c.1738_1740del | ENSP00000346440.3:p.Arg580del | |
| ENST00000356073.8:c.1726_1728del | ENSP00000348374.4:p.Arg576del | |
| ENST00000398339.5:c.2044_2046del | ENSP00000381382.1:p.Arg682del | |
| ENST00000457482.7:c.1258_1260del | ENSP00000409447.2:p.Arg420del | |
| ENST00000537578.5:c.1666_1668del | ENSP00000440731.1:p.Arg556del | |
| ENST00000537856.7:c.1336_1338del | ENSP00000439827.2:p.Arg446del | |
| ENST00000540999.5:c.1654_1656del | ENSP00000445202.1:p.Arg552del | |
| ENST00000543082.5:c.1600_1602del | ENSP00000439656.1:p.Arg534del | |
| ENST00000544241.6:c.1525_1527del | ENSP00000441562.2:p.Arg509del | |
| ENST00000561831.7:c.1246_1248del | ENSP00000457765.1:p.Arg416del | |
| ENST00000561992.5:c.1336_1338del | ENSP00000455179.1:p.Arg446del | |
| ENST00000562680.5:n.5261_5263del | ||
| ENST00000564228.5:c.1513_1515del | ENSP00000455261.1:p.Arg505del | |
| ENST00000564403.6:c.1756_1758del | ENSP00000457263.1:p.Arg586del | |
| ENST00000564999.5:c.1726_1728del | ENSP00000457649.1:p.Arg576del | |
| ENST00000565018.6:c.1474_1476del | ENSP00000455984.2:p.Arg492del | |
| ENST00000566279.5:c.1558_1560del | ENSP00000456125.1:p.Arg520del | |
| ENST00000566286.5:c.1717_1719del | ENSP00000455418.2:p.Arg573del | |
| ENST00000567880.5:c.1546_1548del | ENSP00000454366.1:p.Arg516del | |
| ENST00000568673.5:c.1666_1668del | ENSP00000455135.1:p.Arg556del | |
| ENST00000568740.5:c.1651_1653del | ENSP00000455346.1:p.Arg551del | |
| ENST00000570177.6:c.1336_1338del | ENSP00000454647.1:p.Arg446del | |
| ENST00000570287.6:c.1246_1248del | ENSP00000455763.1:p.Arg416del | |
| ENST00000616053.4:c.1474_1476del | ENSP00000478549.1:p.Arg492del | |
| ENST00000626466.1:n.761_763del | ||
| ENST00000626584.2:c.1078_1080del | ENSP00000486072.1:p.Arg360del | |
| ENST00000629387.2:c.1738_1740del | ENSP00000486670.1:p.Arg580del | |
| NM_001083962.1:c.1738_1740del | NP_001077431.1:p.Arg580del | |
| NM_001243226.2:c.2044_2046del | NP_001230155.2:p.Arg682del | |
| NM_001243227.1:c.1666_1668del | NP_001230156.1:p.Arg556del | |
| NM_001243228.1:c.1756_1758del | NP_001230157.1:p.Arg586del | |
| NM_001243230.1:c.1717_1719del | NP_001230159.1:p.Arg573del | |
| NM_001243231.1:c.1600_1602del | NP_001230160.1:p.Arg534del | |
| NM_001243232.1:c.1525_1527del | NP_001230161.1:p.Arg509del | |
| NM_001243233.1:c.1336_1338del | NP_001230162.1:p.Arg446del | |
| NM_001243234.1:c.1258_1260del | NP_001230163.1:p.Arg420del | |
| NM_001243235.1:c.1246_1248del | NP_001230164.1:p.Arg416del | |
| NM_001243236.1:c.1246_1248del | NP_001230165.1:p.Arg416del | |
| NM_001306207.1:c.1654_1656del | NP_001293136.1:p.Arg552del | |
| NM_001306208.1:c.1513_1515del | NP_001293137.1:p.Arg505del | |
| NM_003199.2:c.1726_1728del | NP_003190.1:p.Arg576del | |
| XM_005266739.3:c.1666_1668del | XP_005266796.2:p.Arg556del | |
| XM_005266741.3:c.1735_1737del | XP_005266798.1:p.Arg579del | |
| XM_005266743.3:c.1666_1668del | XP_005266800.1:p.Arg556del | |
| XM_005266744.3:c.1666_1668del | XP_005266801.1:p.Arg556del | |
| XM_005266745.3:c.1663_1665del | XP_005266802.1:p.Arg555del | |
| XM_005266747.3:c.1612_1614del | XP_005266804.1:p.Arg538del | |
| XM_005266749.3:c.1528_1530del | XP_005266806.1:p.Arg510del | |
| XM_005266752.3:c.1348_1350del | XP_005266809.1:p.Arg450del | |
| XM_005266754.3:c.1348_1350del | XP_005266811.1:p.Arg450del | |
| XM_005266755.3:c.1348_1350del | XP_005266812.1:p.Arg450del | |
| XM_005266761.3:c.1255_1257del | XP_005266818.1:p.Arg419del | |
| XM_006722536.2:c.1738_1740del | XP_006722599.1:p.Arg580del | |
| XM_006722537.2:c.1738_1740del | XP_006722600.1:p.Arg580del | |
| XM_006722538.2:c.1663_1665del | XP_006722601.1:p.Arg555del | |
| XM_006722539.2:c.1348_1350del | XP_006722602.1:p.Arg450del | |
| XM_006722540.2:c.1336_1338del | XP_006722603.1:p.Arg446del | |
| XM_011526154.1:c.2041_2043del | XP_011524456.1:p.Arg681del | |
| XM_011526155.1:c.2041_2043del | XP_011524457.1:p.Arg681del | |
| XM_011526156.1:c.2032_2034del | XP_011524458.1:p.Arg678del | |
| XM_011526157.1:c.2029_2031del | XP_011524459.1:p.Arg677del | |
| XM_011526158.1:c.1732_1734del | XP_011524460.1:p.Arg578del | |
| XM_011526159.1:c.1348_1350del | XP_011524461.1:p.Arg450del | |
| XM_011526160.1:c.1348_1350del | XP_011524462.1:p.Arg450del | |
| XM_011526161.1:c.1348_1350del | XP_011524463.1:p.Arg450del | |
| XM_011526162.1:c.1348_1350del | XP_011524464.1:p.Arg450del | |
| XM_011526163.1:c.1348_1350del | XP_011524465.1:p.Arg450del | |
| XM_011526164.1:c.1336_1338del | XP_011524466.1:p.Arg446del | |
| NM_001330604.2:c.1735_1737del | NP_001317533.1:p.Arg579del | |
| NM_001330605.2:c.1348_1350del | NP_001317534.1:p.Arg450del | |
| NM_001348211.1:c.1612_1614del | NP_001335140.1:p.Arg538del | |
| NM_001348212.1:c.1336_1338del | NP_001335141.1:p.Arg446del | |
| NM_001348213.1:c.1348_1350del | NP_001335142.1:p.Arg450del | |
| NM_001348214.1:c.1243_1245del | NP_001335143.1:p.Arg415del | |
| NM_001348215.1:c.1090_1092del | NP_001335144.1:p.Arg364del | |
| NM_001348216.1:c.1258_1260del | NP_001335145.1:p.Arg420del | |
| NM_001348217.1:c.1666_1668del | NP_001335146.1:p.Arg556del | |
| NM_001348218.1:c.1666_1668del | NP_001335147.1:p.Arg556del | |
| NM_001348219.1:c.1654_1656del | NP_001335148.1:p.Arg552del | |
| NM_001348220.1:c.1651_1653del | NP_001335149.1:p.Arg551del | |
| XM_005266739.4:c.1666_1668del | XP_005266796.2:p.Arg556del | |
| XM_005266741.4:c.1735_1737del | XP_005266798.1:p.Arg579del | |
| XM_005266745.4:c.1663_1665del | XP_005266802.1:p.Arg555del | |
| XM_005266749.4:c.1528_1530del | XP_005266806.1:p.Arg510del | |
| XM_005266752.5:c.1348_1350del | XP_005266809.1:p.Arg450del | |
| XM_005266755.5:c.1348_1350del | XP_005266812.1:p.Arg450del | |
| XM_005266761.4:c.1255_1257del | XP_005266818.1:p.Arg419del | |
| XM_006722536.3:c.1738_1740del | XP_006722599.1:p.Arg580del | |
| XM_006722537.3:c.1738_1740del | XP_006722600.1:p.Arg580del | |
| XM_006722538.3:c.1663_1665del | XP_006722601.1:p.Arg555del | |
| XM_017025934.2:c.1663_1665del | XP_016881423.1:p.Arg555del | |
| XM_017025935.2:c.1663_1665del | XP_016881424.1:p.Arg555del | |
| XM_017025936.2:c.1654_1656del | XP_016881425.1:p.Arg552del | |
| XM_017025937.2:c.1651_1653del | XP_016881426.1:p.Arg551del | |
| XM_017025938.2:c.1735_1737del | XP_016881427.1:p.Arg579del | |
| XM_017025940.2:c.1726_1728del | XP_016881429.1:p.Arg576del | |
| XM_017025941.2:c.1726_1728del | XP_016881430.1:p.Arg576del | |
| XM_017025942.2:c.1723_1725del | XP_016881431.1:p.Arg575del | |
| XM_017025943.2:c.1723_1725del | XP_016881432.1:p.Arg575del | |
| XM_017025944.2:c.1663_1665del | XP_016881433.1:p.Arg555del | |
| XM_017025945.2:c.1663_1665del | XP_016881434.1:p.Arg555del | |
| XM_017025946.2:c.1654_1656del | XP_016881435.1:p.Arg552del | |
| XM_017025948.2:c.1651_1653del | XP_016881437.1:p.Arg551del | |
| XM_017025950.2:c.1648_1650del | XP_016881439.1:p.Arg550del | |
| XM_017025951.2:c.1609_1611del | XP_016881440.1:p.Arg537del | |
| XM_017025952.2:c.1522_1524del | XP_016881441.1:p.Arg508del | |
| XM_017025953.2:c.1516_1518del | XP_016881442.1:p.Arg506del | |
| XM_017025954.2:c.1345_1347del | XP_016881443.1:p.Arg449del | |
| XM_017025956.2:c.1336_1338del | XP_016881445.1:p.Arg446del | |
| XM_024451240.1:c.1663_1665del | XP_024307008.1:p.Arg555del | |
| XM_024451241.1:c.1501_1503del | XP_024307009.1:p.Arg501del | |
| NM_001083962.2:c.1738_1740del MANE Select | NP_001077431.1:p.Arg580del | |
| NM_001243226.3:c.2044_2046del | NP_001230155.2:p.Arg682del | |
| NM_001243227.2:c.1666_1668del | NP_001230156.1:p.Arg556del | |
| NM_001243228.2:c.1756_1758del | NP_001230157.1:p.Arg586del | |
| NM_001243231.2:c.1600_1602del | NP_001230160.1:p.Arg534del | |
| NM_001243233.2:c.1336_1338del | NP_001230162.1:p.Arg446del | |
| NM_001243234.2:c.1258_1260del | NP_001230163.1:p.Arg420del | |
| NM_001243235.2:c.1246_1248del | NP_001230164.1:p.Arg416del | |
| NM_001243236.2:c.1246_1248del | NP_001230165.1:p.Arg416del | |
| NM_001330604.3:c.1735_1737del | NP_001317533.1:p.Arg579del | |
| NM_001330605.3:c.1348_1350del | NP_001317534.1:p.Arg450del | |
| NM_001348211.2:c.1612_1614del | NP_001335140.1:p.Arg538del | |
| NM_001348212.2:c.1336_1338del | NP_001335141.1:p.Arg446del | |
| NM_001348213.2:c.1348_1350del | NP_001335142.1:p.Arg450del | |
| NM_001348214.2:c.1243_1245del | NP_001335143.1:p.Arg415del | |
| NM_001348215.2:c.1090_1092del | NP_001335144.1:p.Arg364del | |
| NM_001348216.2:c.1258_1260del | NP_001335145.1:p.Arg420del | |
| NM_001348218.2:c.1666_1668del | NP_001335147.1:p.Arg556del | |
| NM_001348219.2:c.1654_1656del | NP_001335148.1:p.Arg552del | |
| NM_001369567.1:c.1738_1740del | NP_001356496.1:p.Arg580del | |
| NM_001369568.1:c.1738_1740del | NP_001356497.1:p.Arg580del | |
| NM_001369569.1:c.1735_1737del | NP_001356498.1:p.Arg579del | |
| NM_001369570.1:c.1735_1737del | NP_001356499.1:p.Arg579del | |
| NM_001369571.1:c.1726_1728del | NP_001356500.1:p.Arg576del | |
| NM_001369572.1:c.1726_1728del | NP_001356501.1:p.Arg576del | |
| NM_001369573.1:c.1723_1725del | NP_001356502.1:p.Arg575del | |
| NM_001369574.1:c.1723_1725del | NP_001356503.1:p.Arg575del | |
| NM_001369575.1:c.1666_1668del | NP_001356504.1:p.Arg556del | |
| NM_001369576.1:c.1663_1665del | NP_001356505.1:p.Arg555del | |
| NM_001369577.1:c.1663_1665del | NP_001356506.1:p.Arg555del | |
| NM_001369578.1:c.1663_1665del | NP_001356507.1:p.Arg555del | |
| NM_001369579.1:c.1663_1665del | NP_001356508.1:p.Arg555del | |
| NM_001369580.1:c.1663_1665del | NP_001356509.1:p.Arg555del | |
| NM_001369581.1:c.1663_1665del | NP_001356510.1:p.Arg555del | |
| NM_001369582.1:c.1654_1656del | NP_001356511.1:p.Arg552del | |
| NM_001369583.1:c.1654_1656del | NP_001356512.1:p.Arg552del | |
| NM_001369584.1:c.1651_1653del | NP_001356513.1:p.Arg551del | |
| NM_001369585.1:c.1651_1653del | NP_001356514.1:p.Arg551del | |
| NM_001369586.1:c.1669_1671del | NP_001356515.1:p.Arg557del | |
| NM_003199.3:c.1726_1728del | NP_003190.1:p.Arg576del | |
| NM_001243230.2:c.1717_1719del | NP_001230159.1:p.Arg573del |