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.
Linked Data
dbSNP Id:
rs1949302143
gnomAD v3:
9-131518858-GACTGGGGGTATCGGCA-G
gnomAD v4:
9-131518858-GACTGGGGGTATCGGCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131518864_131518879del , CM000671.2:g.131518864_131518879del | GRCh38 |
| NC_000009.11:g.134394251_134394266del , CM000671.1:g.134394251_134394266del | GRCh37 |
| NC_000009.10:g.133384072_133384087del | NCBI36 |
| NG_008896.1:g.20963_20978del | |
| NG_008896.2:g.20963_20978del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1231_1246del | ENSP00000343034.7:p.Gly411ArgfsTer? | |
| ENST00000404875.7:n.1933_1948del | ||
| ENST00000423007.6:c.1450_1465del | ENSP00000404119.2:p.Gly484ArgfsTer? | |
| ENST00000677295.2:c.*1737_*1752del | ENSP00000504346.2:n.*1737_*1752del | |
| ENST00000678264.2:c.*1576_*1591del | ENSP00000503157.2:n.*1576_*1591del | |
| ENST00000682070.1:n.1858_1873del | ||
| ENST00000682539.1:c.331_346del | ||
| ENST00000682813.1:n.1797_1812del | ||
| ENST00000683392.1:n.4140_4155del | ||
| ENST00000683712.1:n.1798_1813del | ||
| ENST00000683900.1:n.3293_3308del | ||
| ENST00000684062.1:n.2059_2074del | ||
| ENST00000684579.1:n.3239_3254del | ||
| ENST00000684679.1:n.620_635del | ||
| ENST00000341012.12:c.1231_1246del | ENSP00000343034.7:p.Gly411ArgfsTer? | |
| ENST00000372220.5:c.262_277del | ENSP00000361294.5:p.Gly88ArgfsTer? | |
| ENST00000372228.9:c.1459_1474del | ENSP00000361302.3:p.Gly487ArgfsTer? | |
| ENST00000402686.8:c.1393_1408del MANE Select | ENSP00000385797.4:p.Gly465ArgfsTer? | |
| ENST00000676640.1:c.1393_1408del | ENSP00000503281.1:p.Gly465ArgfsTer? | |
| ENST00000676803.1:c.568_583del | ENSP00000503093.1:p.Gly190ArgfsTer? | |
| ENST00000676835.1:c.*608_*623del | ENSP00000502911.1:n.*608_*623del | |
| ENST00000677029.1:c.937_952del | ENSP00000502936.1:p.Gly313ArgfsTer? | |
| ENST00000677099.1:c.*1103_*1118del | ENSP00000504553.1:n.*1103_*1118del | |
| ENST00000677216.1:c.1042_1057del | ENSP00000503772.1:p.Gly348ArgfsTer? | |
| ENST00000677221.1:n.418_433del | ||
| ENST00000677295.1:c.*770_*785del | ENSP00000504346.1:n.*770_*785del | |
| ENST00000677444.1:c.1338_1353del | ||
| ENST00000677586.1:n.874_889del | ||
| ENST00000677626.1:c.1042_1057del | ENSP00000503552.1:p.Gly348ArgfsTer? | |
| ENST00000677677.1:n.1353_1368del | ||
| ENST00000677853.1:c.*401_*416del | ENSP00000503488.1:n.*401_*416del | |
| ENST00000678202.1:n.552_567del | ||
| ENST00000678264.1:c.*770_*785del | ENSP00000503157.1:n.*770_*785del | |
| ENST00000678303.1:c.1303_1318del | ENSP00000503696.1:p.Gly435ArgfsTer? | |
| ENST00000678366.1:c.*1642_*1657del | ENSP00000504353.1:n.*1642_*1657del | |
| ENST00000678546.1:c.*1338_*1353del | ENSP00000503062.1:n.*1338_*1353del | |
| ENST00000678548.1:c.*1465_*1480del | ENSP00000503934.1:n.*1465_*1480del | |
| ENST00000678626.1:n.1229_1244del | ||
| ENST00000678733.1:c.474_489del | ||
| ENST00000678739.1:c.*1719_*1734del | ENSP00000503806.1:n.*1719_*1734del | |
| ENST00000678833.1:c.*840_*855del | ENSP00000503893.1:n.*840_*855del | |
| ENST00000679023.1:c.1231_1246del | ENSP00000503718.1:p.Gly411ArgfsTer? | |
| ENST00000679076.1:c.1012_1027del | ||
| ENST00000679111.1:c.*149_*164del | ENSP00000504257.1:n.*149_*164del | |
| ENST00000679189.1:c.1042_1057del | ENSP00000503356.1:p.Gly348ArgfsTer? | |
| ENST00000341012.11:c.1231_1246del | ENSP00000343034.7:p.Gly411ArgfsTer? | |
| ENST00000372220.4:c.256_271del | ENSP00000361294.4:p.Gly86ArgfsTer? | |
| ENST00000372228.7:c.1459_1474del | ENSP00000361302.3:p.Gly487ArgfsTer? | |
| ENST00000402686.7:c.1393_1408del | ENSP00000385797.3:p.Gly465ArgfsTer? | |
| ENST00000404875.6:c.1042_1057del | ENSP00000384531.2:p.Gly348ArgfsTer? | |
| ENST00000423007.5:c.1393_1408del | ENSP00000404119.1:p.Gly465ArgfsTer? | |
| ENST00000467848.1:n.97_112del | ||
| ENST00000485278.5:n.1948_1963del | ||
| NM_001077365.1:c.1393_1408del | NP_001070833.1:p.Gly465ArgfsTer? | |
| NM_001077366.1:c.1231_1246del | NP_001070834.1:p.Gly411ArgfsTer? | |
| NM_001136113.1:c.1393_1408del | NP_001129585.1:p.Gly465ArgfsTer? | |
| NM_001136114.1:c.1042_1057del | NP_001129586.1:p.Gly348ArgfsTer? | |
| NM_007171.3:c.1459_1474del | NP_009102.3:p.Gly487ArgfsTer? | |
| XM_005272156.1:c.1459_1474del | XP_005272213.1:p.Gly487ArgfsTer? | |
| XM_005272158.1:c.1297_1312del | XP_005272215.1:p.Gly433ArgfsTer? | |
| XM_005272159.1:c.1108_1123del | XP_005272216.1:p.Gly370ArgfsTer? | |
| XM_005272162.1:c.262_277del | XP_005272219.1:p.Gly88ArgfsTer? | |
| XM_006716932.1:c.1108_1123del | XP_006716995.1:p.Gly370ArgfsTer? | |
| XM_011518140.1:c.1312_1327del | XP_011516442.1:p.Gly438ArgfsTer? | |
| XM_011518141.1:c.1246_1261del | XP_011516443.1:p.Gly416ArgfsTer? | |
| XM_011518142.1:c.1150_1165del | XP_011516444.1:p.Gly384ArgfsTer? | |
| XM_011518143.1:c.1144_1159del | XP_011516445.1:p.Gly382ArgfsTer? | |
| XM_011518144.1:c.*149_*164del | XP_011516446.1:n.*149_*164del | |
| XM_011518145.1:c.1003_1018del | XP_011516447.1:p.Gly335ArgfsTer? | |
| XM_011518146.1:c.*149_*164del | XP_011516448.1:n.*149_*164del | |
| XM_011518147.1:c.331_346del | XP_011516449.1:p.Gly111ArgfsTer? | |
| XR_929703.1:n.1635_1650del | ||
| NM_001353193.1:c.1459_1474del | NP_001340122.1:p.Gly487ArgfsTer? | |
| NM_001353194.1:c.1231_1246del | NP_001340123.1:p.Gly411ArgfsTer? | |
| NM_001353195.1:c.1042_1057del | NP_001340124.1:p.Gly348ArgfsTer? | |
| NM_001353196.1:c.1303_1318del | NP_001340125.1:p.Gly435ArgfsTer? | |
| NM_001353197.1:c.1297_1312del | NP_001340126.1:p.Gly433ArgfsTer? | |
| NM_001353198.1:c.1297_1312del | NP_001340127.1:p.Gly433ArgfsTer? | |
| NM_001353199.1:c.1108_1123del | NP_001340128.1:p.Gly370ArgfsTer? | |
| NM_001353200.1:c.937_952del | NP_001340129.1:p.Gly313ArgfsTer? | |
| NR_148391.1:n.1443_1458del | ||
| NR_148392.1:n.1661_1676del | ||
| NR_148393.1:n.1582_1597del | ||
| NR_148394.1:n.1336_1351del | ||
| NR_148395.1:n.1734_1749del | ||
| NR_148396.1:n.1368_1383del | ||
| NR_148397.1:n.1493_1508del | ||
| NR_148398.1:n.1448_1463del | ||
| NR_148399.1:n.1974_1989del | ||
| NR_148400.1:n.1573_1588del | ||
| XM_005272162.3:c.262_277del | XP_005272219.1:p.Gly88ArgfsTer? | |
| XM_006716932.2:c.1108_1123del | XP_006716995.1:p.Gly370ArgfsTer? | |
| XM_011518140.2:c.1312_1327del | XP_011516442.1:p.Gly438ArgfsTer? | |
| XM_011518141.2:c.1246_1261del | XP_011516443.1:p.Gly416ArgfsTer? | |
| XM_011518142.2:c.1150_1165del | XP_011516444.1:p.Gly384ArgfsTer? | |
| XM_011518143.2:c.1144_1159del | XP_011516445.1:p.Gly382ArgfsTer? | |
| XM_011518145.2:c.1003_1018del | XP_011516447.1:p.Gly335ArgfsTer? | |
| XM_017014205.2:c.262_277del | XP_016869694.1:p.Gly88ArgfsTer? | |
| XM_024447380.1:c.262_277del | XP_024303148.1:p.Gly88ArgfsTer? | |
| XM_024447381.1:c.568_583del | XP_024303149.1:p.Gly190ArgfsTer? | |
| XM_024447382.1:c.262_277del | XP_024303150.1:p.Gly88ArgfsTer? | |
| XR_001746160.2:n.1563_1578del | ||
| XR_001746162.2:n.1768_1783del | ||
| XR_001746164.1:n.1485_1500del | ||
| XR_001746166.2:n.1780_1795del | ||
| NM_001077365.2:c.1393_1408del MANE Select | NP_001070833.1:p.Gly465ArgfsTer? | |
| NM_001077366.2:c.1231_1246del | NP_001070834.1:p.Gly411ArgfsTer? | |
| NM_001136113.2:c.1393_1408del | NP_001129585.1:p.Gly465ArgfsTer? | |
| NM_001136114.2:c.1042_1057del | NP_001129586.1:p.Gly348ArgfsTer? | |
| NM_001353193.2:c.1459_1474del | NP_001340122.2:p.Gly487ArgfsTer? | |
| NM_001353194.2:c.1231_1246del | NP_001340123.1:p.Gly411ArgfsTer? | |
| NM_001353195.2:c.1042_1057del | NP_001340124.1:p.Gly348ArgfsTer? | |
| NM_001353196.2:c.1303_1318del | NP_001340125.1:p.Gly435ArgfsTer? | |
| NM_001353197.2:c.1297_1312del | NP_001340126.2:p.Gly433ArgfsTer? | |
| NM_001353198.2:c.1297_1312del | NP_001340127.2:p.Gly433ArgfsTer? | |
| NM_001353199.2:c.1108_1123del | NP_001340128.2:p.Gly370ArgfsTer? | |
| NM_001353200.2:c.937_952del | NP_001340129.1:p.Gly313ArgfsTer? | |
| NM_001374689.1:c.1381_1396del | NP_001361618.1:p.Gly461ArgfsTer? | |
| NM_001374690.1:c.1365+327_1365+342del | NP_001361619.1:n.1365+327_1365+342del | |
| NM_001374691.1:c.1042_1057del | NP_001361620.1:p.Gly348ArgfsTer? | |
| NM_001374692.1:c.1042_1057del | NP_001361621.1:p.Gly348ArgfsTer? | |
| NM_001374693.1:c.1042_1057del | NP_001361622.1:p.Gly348ArgfsTer? | |
| NM_001374695.1:c.1003_1018del | NP_001361624.1:p.Gly335ArgfsTer? | |
| NM_007171.4:c.1459_1474del | NP_009102.4:p.Gly487ArgfsTer? | |
| NR_148391.2:n.1427_1442del | ||
| NR_148392.2:n.1645_1660del | ||
| NR_148393.2:n.1566_1581del | ||
| NR_148394.2:n.1320_1335del | ||
| NR_148395.2:n.1718_1733del | ||
| NR_148396.2:n.1352_1367del | ||
| NR_148397.2:n.1477_1492del | ||
| NR_148398.2:n.1432_1447del | ||
| NR_148399.2:n.1958_1973del | ||
| NR_148400.2:n.1557_1572del |