ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131515444_131515446del , CM000671.2:g.131515444_131515446del | GRCh38 |
| NC_000009.11:g.134390831_134390833del , CM000671.1:g.134390831_134390833del | GRCh37 |
| NC_000009.10:g.133380652_133380654del | NCBI36 |
| NG_008896.1:g.17543_17545del | |
| NG_008896.2:g.17543_17545del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1032_1034del | ENSP00000343034.7:p.Leu345del | |
| ENST00000404875.7:n.1734_1736del | ||
| ENST00000423007.6:c.1251_1253del | ENSP00000404119.2:p.Leu418del | |
| ENST00000677295.2:c.*1538_*1540del | ENSP00000504346.2:n.*1538_*1540del | |
| ENST00000678264.2:c.*1377_*1379del | ENSP00000503157.2:n.*1377_*1379del | |
| ENST00000682070.1:n.1659_1661del | ||
| ENST00000682539.1:c.19_21del | ||
| ENST00000682813.1:n.1459_1461del | ||
| ENST00000683392.1:n.3941_3943del | ||
| ENST00000683712.1:n.1599_1601del | ||
| ENST00000683900.1:n.3094_3096del | ||
| ENST00000684062.1:n.1860_1862del | ||
| ENST00000684579.1:n.3040_3042del | ||
| ENST00000341012.12:c.1032_1034del | ENSP00000343034.7:p.Leu345del | |
| ENST00000372220.5:c.63_65del | ENSP00000361294.5:p.Leu22del | |
| ENST00000372228.9:c.1260_1262del | ENSP00000361302.3:p.Leu421del | |
| ENST00000402686.8:c.1194_1196del MANE Select | ENSP00000385797.4:p.Leu399del | |
| ENST00000676640.1:c.1194_1196del | ENSP00000503281.1:p.Leu399del | |
| ENST00000676803.1:c.369_371del | ENSP00000503093.1:p.Leu124del | |
| ENST00000676835.1:c.*409_*411del | ENSP00000502911.1:n.*409_*411del | |
| ENST00000677029.1:c.738_740del | ENSP00000502936.1:p.Leu247del | |
| ENST00000677099.1:c.*904_*906del | ENSP00000504553.1:n.*904_*906del | |
| ENST00000677216.1:c.843_845del | ENSP00000503772.1:p.Leu282del | |
| ENST00000677293.1:c.369_371del | ENSP00000504278.1:p.Leu124del | |
| ENST00000677295.1:c.*571_*573del | ENSP00000504346.1:n.*571_*573del | |
| ENST00000677444.1:c.1000_1002del | ||
| ENST00000677586.1:n.675_677del | ||
| ENST00000677626.1:c.843_845del | ENSP00000503552.1:p.Leu282del | |
| ENST00000677677.1:n.1154_1156del | ||
| ENST00000677853.1:c.*202_*204del | ENSP00000503488.1:n.*202_*204del | |
| ENST00000677944.1:c.456_458del | ||
| ENST00000678264.1:c.*571_*573del | ENSP00000503157.1:n.*571_*573del | |
| ENST00000678303.1:c.1104_1106del | ENSP00000503696.1:p.Leu369del | |
| ENST00000678366.1:c.*1443_*1445del | ENSP00000504353.1:n.*1443_*1445del | |
| ENST00000678546.1:c.*1139_*1141del | ENSP00000503062.1:n.*1139_*1141del | |
| ENST00000678548.1:c.*1266_*1268del | ENSP00000503934.1:n.*1266_*1268del | |
| ENST00000678626.1:n.891_893del | ||
| ENST00000678733.1:c.275_277del | ||
| ENST00000678739.1:c.*1520_*1522del | ENSP00000503806.1:n.*1520_*1522del | |
| ENST00000678795.1:n.281_283del | ||
| ENST00000678833.1:c.*641_*643del | ENSP00000503893.1:n.*641_*643del | |
| ENST00000678942.1:c.374_376del | ENSP00000504690.1:n.374_376del | |
| ENST00000679023.1:c.1032_1034del | ENSP00000503718.1:p.Leu345del | |
| ENST00000679076.1:c.813_815del | ||
| ENST00000679111.1:c.1194_1196del | ENSP00000504257.1:p.Leu399del | |
| ENST00000679189.1:c.843_845del | ENSP00000503356.1:p.Leu282del | |
| ENST00000341012.11:c.1032_1034del | ENSP00000343034.7:p.Leu345del | |
| ENST00000372228.7:c.1260_1262del | ENSP00000361302.3:p.Leu421del | |
| ENST00000402686.7:c.1194_1196del | ENSP00000385797.3:p.Leu399del | |
| ENST00000404875.6:c.843_845del | ENSP00000384531.2:p.Leu282del | |
| ENST00000423007.5:c.1194_1196del | ENSP00000404119.1:p.Leu399del | |
| ENST00000485278.5:n.1749_1751del | ||
| NM_001077365.1:c.1194_1196del | NP_001070833.1:p.Leu399del | |
| NM_001077366.1:c.1032_1034del | NP_001070834.1:p.Leu345del | |
| NM_001136113.1:c.1194_1196del | NP_001129585.1:p.Leu399del | |
| NM_001136114.1:c.843_845del | NP_001129586.1:p.Leu282del | |
| NM_007171.3:c.1260_1262del | NP_009102.3:p.Leu421del | |
| XM_005272156.1:c.1260_1262del | XP_005272213.1:p.Leu421del | |
| XM_005272158.1:c.1098_1100del | XP_005272215.1:p.Leu367del | |
| XM_005272159.1:c.909_911del | XP_005272216.1:p.Leu304del | |
| XM_005272162.1:c.63_65del | XP_005272219.1:p.Leu22del | |
| XM_006716932.1:c.909_911del | XP_006716995.1:p.Leu304del | |
| XM_011518140.1:c.1113_1115del | XP_011516442.1:p.Leu372del | |
| XM_011518141.1:c.1047_1049del | XP_011516443.1:p.Leu350del | |
| XM_011518142.1:c.951_953del | XP_011516444.1:p.Leu318del | |
| XM_011518143.1:c.945_947del | XP_011516445.1:p.Leu316del | |
| XM_011518144.1:c.1260_1262del | XP_011516446.1:p.Leu421del | |
| XM_011518145.1:c.804_806del | XP_011516447.1:p.Leu269del | |
| XM_011518146.1:c.945_947del | XP_011516448.1:p.Leu316del | |
| XR_929703.1:n.1436_1438del | ||
| NM_001353193.1:c.1260_1262del | NP_001340122.1:p.Leu421del | |
| NM_001353194.1:c.1032_1034del | NP_001340123.1:p.Leu345del | |
| NM_001353195.1:c.843_845del | NP_001340124.1:p.Leu282del | |
| NM_001353196.1:c.1104_1106del | NP_001340125.1:p.Leu369del | |
| NM_001353197.1:c.1098_1100del | NP_001340126.1:p.Leu367del | |
| NM_001353198.1:c.1098_1100del | NP_001340127.1:p.Leu367del | |
| NM_001353199.1:c.909_911del | NP_001340128.1:p.Leu304del | |
| NM_001353200.1:c.738_740del | NP_001340129.1:p.Leu247del | |
| NR_148391.1:n.1244_1246del | ||
| NR_148392.1:n.1462_1464del | ||
| NR_148393.1:n.1244_1246del | ||
| NR_148394.1:n.1137_1139del | ||
| NR_148395.1:n.1396_1398del | ||
| NR_148396.1:n.1030_1032del | ||
| NR_148397.1:n.1294_1296del | ||
| NR_148398.1:n.1249_1251del | ||
| NR_148399.1:n.1636_1638del | ||
| NR_148400.1:n.1235_1237del | ||
| XM_005272162.3:c.63_65del | XP_005272219.1:p.Leu22del | |
| XM_006716932.2:c.909_911del | XP_006716995.1:p.Leu304del | |
| XM_011518140.2:c.1113_1115del | XP_011516442.1:p.Leu372del | |
| XM_011518141.2:c.1047_1049del | XP_011516443.1:p.Leu350del | |
| XM_011518142.2:c.951_953del | XP_011516444.1:p.Leu318del | |
| XM_011518143.2:c.945_947del | XP_011516445.1:p.Leu316del | |
| XM_011518145.2:c.804_806del | XP_011516447.1:p.Leu269del | |
| XM_017014205.2:c.63_65del | XP_016869694.1:p.Leu22del | |
| XM_024447380.1:c.63_65del | XP_024303148.1:p.Leu22del | |
| XM_024447381.1:c.369_371del | XP_024303149.1:p.Leu124del | |
| XM_024447382.1:c.63_65del | XP_024303150.1:p.Leu22del | |
| XR_001746160.2:n.1364_1366del | ||
| XR_001746162.2:n.1430_1432del | ||
| XR_001746164.1:n.1147_1149del | ||
| XR_001746166.2:n.1581_1583del | ||
| NM_001077365.2:c.1194_1196del MANE Select | NP_001070833.1:p.Leu399del | |
| NM_001077366.2:c.1032_1034del | NP_001070834.1:p.Leu345del | |
| NM_001136113.2:c.1194_1196del | NP_001129585.1:p.Leu399del | |
| NM_001136114.2:c.843_845del | NP_001129586.1:p.Leu282del | |
| NM_001353193.2:c.1260_1262del | NP_001340122.2:p.Leu421del | |
| NM_001353194.2:c.1032_1034del | NP_001340123.1:p.Leu345del | |
| NM_001353195.2:c.843_845del | NP_001340124.1:p.Leu282del | |
| NM_001353196.2:c.1104_1106del | NP_001340125.1:p.Leu369del | |
| NM_001353197.2:c.1098_1100del | NP_001340126.2:p.Leu367del | |
| NM_001353198.2:c.1098_1100del | NP_001340127.2:p.Leu367del | |
| NM_001353199.2:c.909_911del | NP_001340128.2:p.Leu304del | |
| NM_001353200.2:c.738_740del | NP_001340129.1:p.Leu247del | |
| NM_001374689.1:c.1182_1184del | NP_001361618.1:p.Leu395del | |
| NM_001374690.1:c.1194_1196del | NP_001361619.1:p.Leu399del | |
| NM_001374691.1:c.843_845del | NP_001361620.1:p.Leu282del | |
| NM_001374692.1:c.843_845del | NP_001361621.1:p.Leu282del | |
| NM_001374693.1:c.843_845del | NP_001361622.1:p.Leu282del | |
| NM_001374695.1:c.804_806del | NP_001361624.1:p.Leu269del | |
| NM_007171.4:c.1260_1262del | NP_009102.4:p.Leu421del | |
| NR_148391.2:n.1228_1230del | ||
| NR_148392.2:n.1446_1448del | ||
| NR_148393.2:n.1228_1230del | ||
| NR_148394.2:n.1121_1123del | ||
| NR_148395.2:n.1380_1382del | ||
| NR_148396.2:n.1014_1016del | ||
| NR_148397.2:n.1278_1280del | ||
| NR_148398.2:n.1233_1235del | ||
| NR_148399.2:n.1620_1622del | ||
| NR_148400.2:n.1219_1221del |