SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131518524_131518544delinsCCGCTGTCTTAAAGGTAAGGA , CM000671.2:g.131518524_131518544delinsCCGCTGTCTTAAAGGTAAGGA | GRCh38 |
| NC_000009.11:g.134393911_134393931delinsCCGCTGTCTTAAAGGTAAGGA , CM000671.1:g.134393911_134393931delinsCCGCTGTCTTAAAGGTAAGGA | GRCh37 |
| NC_000009.10:g.133383732_133383752delinsCCGCTGTCTTAAAGGTAAGGA | NCBI36 |
| NG_008896.1:g.20623_20643delinsCCGCTGTCTTAAAGGTAAGGA | |
| NG_008896.2:g.20623_20643delinsCCGCTGTCTTAAAGGTAAGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1190_1203+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000404875.7:n.1892_1905+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000423007.6:c.1409_1422+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000677295.2:c.*1696_*1709+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000678264.2:c.*1535_*1548+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000682070.1:n.1817_1830+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000682539.1:c.290_303+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000682813.1:n.1617_1630+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000683110.1:n.80_93+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000683392.1:n.4099_4112+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000683712.1:n.1757_1770+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000683900.1:n.3252_3265+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000684062.1:n.2018_2031+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000684579.1:n.3198_3211+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000684679.1:n.579_592+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000341012.12:c.1190_1203+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000372220.5:c.221_234+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000372228.9:c.1418_1431+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000402686.8:c.1352_1365+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000676640.1:c.1352_1365+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000676803.1:c.527_540+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000676835.1:c.*567_*580+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000677029.1:c.896_909+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000677099.1:c.*1062_*1075+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000677216.1:c.1001_1014+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000677221.1:n.377_390+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000677295.1:c.*729_*742+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000677444.1:c.1158_1171+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000677586.1:n.833_846+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000677626.1:c.1001_1014+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000677677.1:n.1312_1325+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000677853.1:c.*360_*373+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000677983.1:n.441_454+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000678202.1:n.372_385+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000678264.1:c.*729_*742+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000678303.1:c.1262_1275+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000678366.1:c.*1601_*1614+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000678546.1:c.*1297_*1310+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000678548.1:c.*1424_*1437+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000678626.1:n.1049_1062+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000678733.1:c.433_446+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000678739.1:c.*1678_*1691+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000678795.1:n.439_452+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000678833.1:c.*799_*812+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000678942.1:c.532_545+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000679023.1:c.1190_1203+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000679076.1:c.971_984+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000679111.1:c.1352_1365+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000679189.1:c.1001_1014+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000341012.11:c.1190_1203+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000372220.4:c.215_228+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000372228.7:c.1418_1431+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000402686.7:c.1352_1365+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000404875.6:c.1001_1014+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000423007.5:c.1352_1365+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| ENST00000485278.5:n.1907_1920+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_001077365.1:c.1352_1365+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_001077366.1:c.1190_1203+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_001136113.1:c.1352_1365+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_001136114.1:c.1001_1014+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_007171.3:c.1418_1431+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| XM_005272156.1:c.1418_1431+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| XM_005272158.1:c.1256_1269+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| XM_005272159.1:c.1067_1080+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| XM_005272162.1:c.221_234+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| XM_006716932.1:c.1067_1080+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| XM_011518140.1:c.1271_1284+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| XM_011518141.1:c.1205_1218+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| XM_011518142.1:c.1109_1122+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| XM_011518143.1:c.1103_1116+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| XM_011518144.1:c.1418_1431+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| XM_011518145.1:c.962_975+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| XM_011518146.1:c.1103_1116+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| XM_011518147.1:c.290_303+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| XR_929703.1:n.1594_1607+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_001353193.1:c.1418_1431+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_001353194.1:c.1190_1203+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_001353195.1:c.1001_1014+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_001353196.1:c.1262_1275+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_001353197.1:c.1256_1269+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_001353198.1:c.1256_1269+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_001353199.1:c.1067_1080+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_001353200.1:c.896_909+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NR_148391.1:n.1402_1415+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NR_148392.1:n.1620_1633+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NR_148393.1:n.1402_1415+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NR_148394.1:n.1295_1308+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NR_148395.1:n.1554_1567+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NR_148396.1:n.1188_1201+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NR_148397.1:n.1452_1465+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NR_148398.1:n.1407_1420+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NR_148399.1:n.1794_1807+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NR_148400.1:n.1393_1406+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| XM_005272162.3:c.221_234+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| XM_006716932.2:c.1067_1080+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| XM_011518140.2:c.1271_1284+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| XM_011518141.2:c.1205_1218+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| XM_011518142.2:c.1109_1122+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| XM_011518143.2:c.1103_1116+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| XM_011518145.2:c.962_975+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| XM_017014205.2:c.221_234+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| XM_024447380.1:c.221_234+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| XM_024447381.1:c.527_540+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| XM_024447382.1:c.221_234+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| XR_001746160.2:n.1522_1535+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| XR_001746162.2:n.1588_1601+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| XR_001746164.1:n.1305_1318+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| XR_001746166.2:n.1739_1752+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_001077365.2:c.1352_1365+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_001077366.2:c.1190_1203+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_001136113.2:c.1352_1365+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_001136114.2:c.1001_1014+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_001353193.2:c.1418_1431+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_001353194.2:c.1190_1203+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_001353195.2:c.1001_1014+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_001353196.2:c.1262_1275+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_001353197.2:c.1256_1269+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_001353198.2:c.1256_1269+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_001353199.2:c.1067_1080+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_001353200.2:c.896_909+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_001374689.1:c.1340_1353+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_001374690.1:c.1352_1365+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_001374691.1:c.1001_1014+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_001374692.1:c.1001_1014+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_001374693.1:c.1001_1014+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_001374695.1:c.962_975+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NM_007171.4:c.1418_1431+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NR_148391.2:n.1386_1399+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NR_148392.2:n.1604_1617+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NR_148393.2:n.1386_1399+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NR_148394.2:n.1279_1292+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NR_148395.2:n.1538_1551+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NR_148396.2:n.1172_1185+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NR_148397.2:n.1436_1449+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NR_148398.2:n.1391_1404+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NR_148399.2:n.1778_1791+7delinsCCGCTGTCTTAAAGGTAAGGA | ||
| NR_148400.2:n.1377_1390+7delinsCCGCTGTCTTAAAGGTAAGGA |