ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131515464_131515465delinsTC , CM000671.2:g.131515464_131515465delinsTC | GRCh38 |
| NC_000009.11:g.134390851_134390852delinsTC , CM000671.1:g.134390851_134390852delinsTC | GRCh37 |
| NC_000009.10:g.133380672_133380673delinsTC | NCBI36 |
| NG_008896.1:g.17563_17564delinsTC | |
| NG_008896.2:g.17563_17564delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1052_1053delinsTC | ENSP00000343034.7:p.Glu351Val | |
| ENST00000404875.7:n.1754_1755delinsTC | ||
| ENST00000423007.6:c.1271_1272delinsTC | ENSP00000404119.2:p.Glu424Val | |
| ENST00000677295.2:c.*1558_*1559delinsTC | ENSP00000504346.2:n.*1558_*1559delinsTC | |
| ENST00000678264.2:c.*1397_*1398delinsTC | ENSP00000503157.2:n.*1397_*1398delinsTC | |
| ENST00000682070.1:n.1679_1680delinsTC | ||
| ENST00000682539.1:c.39_40delinsTC | ||
| ENST00000682813.1:n.1479_1480delinsTC | ||
| ENST00000683392.1:n.3961_3962delinsTC | ||
| ENST00000683712.1:n.1619_1620delinsTC | ||
| ENST00000683900.1:n.3114_3115delinsTC | ||
| ENST00000684062.1:n.1880_1881delinsTC | ||
| ENST00000684579.1:n.3060_3061delinsTC | ||
| ENST00000341012.12:c.1052_1053delinsTC | ENSP00000343034.7:p.Glu351Val | |
| ENST00000372220.5:c.83_84delinsTC | ENSP00000361294.5:p.Glu28Val | |
| ENST00000372228.9:c.1280_1281delinsTC | ENSP00000361302.3:p.Glu427Val | |
| ENST00000402686.8:c.1214_1215delinsTC MANE Select | ENSP00000385797.4:p.Glu405Val | |
| ENST00000676640.1:c.1214_1215delinsTC | ENSP00000503281.1:p.Glu405Val | |
| ENST00000676803.1:c.389_390delinsTC | ENSP00000503093.1:p.Glu130Val | |
| ENST00000676835.1:c.*429_*430delinsTC | ENSP00000502911.1:n.*429_*430delinsTC | |
| ENST00000677029.1:c.758_759delinsTC | ENSP00000502936.1:p.Glu253Val | |
| ENST00000677099.1:c.*924_*925delinsTC | ENSP00000504553.1:n.*924_*925delinsTC | |
| ENST00000677216.1:c.863_864delinsTC | ENSP00000503772.1:p.Glu288Val | |
| ENST00000677295.1:c.*591_*592delinsTC | ENSP00000504346.1:n.*591_*592delinsTC | |
| ENST00000677444.1:c.1020_1021delinsTC | ||
| ENST00000677586.1:n.695_696delinsTC | ||
| ENST00000677626.1:c.863_864delinsTC | ENSP00000503552.1:p.Glu288Val | |
| ENST00000677677.1:n.1174_1175delinsTC | ||
| ENST00000677853.1:c.*222_*223delinsTC | ENSP00000503488.1:n.*222_*223delinsTC | |
| ENST00000677944.1:c.476_477delinsTC | ||
| ENST00000678264.1:c.*591_*592delinsTC | ENSP00000503157.1:n.*591_*592delinsTC | |
| ENST00000678303.1:c.1124_1125delinsTC | ENSP00000503696.1:p.Glu375Val | |
| ENST00000678366.1:c.*1463_*1464delinsTC | ENSP00000504353.1:n.*1463_*1464delinsTC | |
| ENST00000678546.1:c.*1159_*1160delinsTC | ENSP00000503062.1:n.*1159_*1160delinsTC | |
| ENST00000678548.1:c.*1286_*1287delinsTC | ENSP00000503934.1:n.*1286_*1287delinsTC | |
| ENST00000678626.1:n.911_912delinsTC | ||
| ENST00000678733.1:c.295_296delinsTC | ||
| ENST00000678739.1:c.*1540_*1541delinsTC | ENSP00000503806.1:n.*1540_*1541delinsTC | |
| ENST00000678795.1:n.301_302delinsTC | ||
| ENST00000678833.1:c.*661_*662delinsTC | ENSP00000503893.1:n.*661_*662delinsTC | |
| ENST00000678942.1:c.394_395delinsTC | ENSP00000504690.1:n.394_395delinsTC | |
| ENST00000679023.1:c.1052_1053delinsTC | ENSP00000503718.1:p.Glu351Val | |
| ENST00000679076.1:c.833_834delinsTC | ||
| ENST00000679111.1:c.1214_1215delinsTC | ENSP00000504257.1:p.Glu405Val | |
| ENST00000679189.1:c.863_864delinsTC | ENSP00000503356.1:p.Glu288Val | |
| ENST00000341012.11:c.1052_1053delinsTC | ENSP00000343034.7:p.Glu351Val | |
| ENST00000372228.7:c.1280_1281delinsTC | ENSP00000361302.3:p.Glu427Val | |
| ENST00000402686.7:c.1214_1215delinsTC | ENSP00000385797.3:p.Glu405Val | |
| ENST00000404875.6:c.863_864delinsTC | ENSP00000384531.2:p.Glu288Val | |
| ENST00000423007.5:c.1214_1215delinsTC | ENSP00000404119.1:p.Glu405Val | |
| ENST00000485278.5:n.1769_1770delinsTC | ||
| NM_001077365.1:c.1214_1215delinsTC | NP_001070833.1:p.Glu405Val | |
| NM_001077366.1:c.1052_1053delinsTC | NP_001070834.1:p.Glu351Val | |
| NM_001136113.1:c.1214_1215delinsTC | NP_001129585.1:p.Glu405Val | |
| NM_001136114.1:c.863_864delinsTC | NP_001129586.1:p.Glu288Val | |
| NM_007171.3:c.1280_1281delinsTC | NP_009102.3:p.Glu427Val | |
| XM_005272156.1:c.1280_1281delinsTC | XP_005272213.1:p.Glu427Val | |
| XM_005272158.1:c.1118_1119delinsTC | XP_005272215.1:p.Glu373Val | |
| XM_005272159.1:c.929_930delinsTC | XP_005272216.1:p.Glu310Val | |
| XM_005272162.1:c.83_84delinsTC | XP_005272219.1:p.Glu28Val | |
| XM_006716932.1:c.929_930delinsTC | XP_006716995.1:p.Glu310Val | |
| XM_011518140.1:c.1133_1134delinsTC | XP_011516442.1:p.Glu378Val | |
| XM_011518141.1:c.1067_1068delinsTC | XP_011516443.1:p.Glu356Val | |
| XM_011518142.1:c.971_972delinsTC | XP_011516444.1:p.Glu324Val | |
| XM_011518143.1:c.965_966delinsTC | XP_011516445.1:p.Glu322Val | |
| XM_011518144.1:c.1280_1281delinsTC | XP_011516446.1:p.Glu427Val | |
| XM_011518145.1:c.824_825delinsTC | XP_011516447.1:p.Glu275Val | |
| XM_011518146.1:c.965_966delinsTC | XP_011516448.1:p.Glu322Val | |
| XR_929703.1:n.1456_1457delinsTC | ||
| NM_001353193.1:c.1280_1281delinsTC | NP_001340122.1:p.Glu427Val | |
| NM_001353194.1:c.1052_1053delinsTC | NP_001340123.1:p.Glu351Val | |
| NM_001353195.1:c.863_864delinsTC | NP_001340124.1:p.Glu288Val | |
| NM_001353196.1:c.1124_1125delinsTC | NP_001340125.1:p.Glu375Val | |
| NM_001353197.1:c.1118_1119delinsTC | NP_001340126.1:p.Glu373Val | |
| NM_001353198.1:c.1118_1119delinsTC | NP_001340127.1:p.Glu373Val | |
| NM_001353199.1:c.929_930delinsTC | NP_001340128.1:p.Glu310Val | |
| NM_001353200.1:c.758_759delinsTC | NP_001340129.1:p.Glu253Val | |
| NR_148391.1:n.1264_1265delinsTC | ||
| NR_148392.1:n.1482_1483delinsTC | ||
| NR_148393.1:n.1264_1265delinsTC | ||
| NR_148394.1:n.1157_1158delinsTC | ||
| NR_148395.1:n.1416_1417delinsTC | ||
| NR_148396.1:n.1050_1051delinsTC | ||
| NR_148397.1:n.1314_1315delinsTC | ||
| NR_148398.1:n.1269_1270delinsTC | ||
| NR_148399.1:n.1656_1657delinsTC | ||
| NR_148400.1:n.1255_1256delinsTC | ||
| XM_005272162.3:c.83_84delinsTC | XP_005272219.1:p.Glu28Val | |
| XM_006716932.2:c.929_930delinsTC | XP_006716995.1:p.Glu310Val | |
| XM_011518140.2:c.1133_1134delinsTC | XP_011516442.1:p.Glu378Val | |
| XM_011518141.2:c.1067_1068delinsTC | XP_011516443.1:p.Glu356Val | |
| XM_011518142.2:c.971_972delinsTC | XP_011516444.1:p.Glu324Val | |
| XM_011518143.2:c.965_966delinsTC | XP_011516445.1:p.Glu322Val | |
| XM_011518145.2:c.824_825delinsTC | XP_011516447.1:p.Glu275Val | |
| XM_017014205.2:c.83_84delinsTC | XP_016869694.1:p.Glu28Val | |
| XM_024447380.1:c.83_84delinsTC | XP_024303148.1:p.Glu28Val | |
| XM_024447381.1:c.389_390delinsTC | XP_024303149.1:p.Glu130Val | |
| XM_024447382.1:c.83_84delinsTC | XP_024303150.1:p.Glu28Val | |
| XR_001746160.2:n.1384_1385delinsTC | ||
| XR_001746162.2:n.1450_1451delinsTC | ||
| XR_001746164.1:n.1167_1168delinsTC | ||
| XR_001746166.2:n.1601_1602delinsTC | ||
| NM_001077365.2:c.1214_1215delinsTC MANE Select | NP_001070833.1:p.Glu405Val | |
| NM_001077366.2:c.1052_1053delinsTC | NP_001070834.1:p.Glu351Val | |
| NM_001136113.2:c.1214_1215delinsTC | NP_001129585.1:p.Glu405Val | |
| NM_001136114.2:c.863_864delinsTC | NP_001129586.1:p.Glu288Val | |
| NM_001353193.2:c.1280_1281delinsTC | NP_001340122.2:p.Glu427Val | |
| NM_001353194.2:c.1052_1053delinsTC | NP_001340123.1:p.Glu351Val | |
| NM_001353195.2:c.863_864delinsTC | NP_001340124.1:p.Glu288Val | |
| NM_001353196.2:c.1124_1125delinsTC | NP_001340125.1:p.Glu375Val | |
| NM_001353197.2:c.1118_1119delinsTC | NP_001340126.2:p.Glu373Val | |
| NM_001353198.2:c.1118_1119delinsTC | NP_001340127.2:p.Glu373Val | |
| NM_001353199.2:c.929_930delinsTC | NP_001340128.2:p.Glu310Val | |
| NM_001353200.2:c.758_759delinsTC | NP_001340129.1:p.Glu253Val | |
| NM_001374689.1:c.1202_1203delinsTC | NP_001361618.1:p.Glu401Val | |
| NM_001374690.1:c.1214_1215delinsTC | NP_001361619.1:p.Glu405Val | |
| NM_001374691.1:c.863_864delinsTC | NP_001361620.1:p.Glu288Val | |
| NM_001374692.1:c.863_864delinsTC | NP_001361621.1:p.Glu288Val | |
| NM_001374693.1:c.863_864delinsTC | NP_001361622.1:p.Glu288Val | |
| NM_001374695.1:c.824_825delinsTC | NP_001361624.1:p.Glu275Val | |
| NM_007171.4:c.1280_1281delinsTC | NP_009102.4:p.Glu427Val | |
| NR_148391.2:n.1248_1249delinsTC | ||
| NR_148392.2:n.1466_1467delinsTC | ||
| NR_148393.2:n.1248_1249delinsTC | ||
| NR_148394.2:n.1141_1142delinsTC | ||
| NR_148395.2:n.1400_1401delinsTC | ||
| NR_148396.2:n.1034_1035delinsTC | ||
| NR_148397.2:n.1298_1299delinsTC | ||
| NR_148398.2:n.1253_1254delinsTC | ||
| NR_148399.2:n.1640_1641delinsTC | ||
| NR_148400.2:n.1239_1240delinsTC |