SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.
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.
This migration is underway but taking longer than originally estimated.
Linked Data
dbSNP Id:
rs34690713
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131518872dup , CM000671.2:g.131518872dup | GRCh38 |
| NC_000009.11:g.134394259dup , CM000671.1:g.134394259dup | GRCh37 |
| NC_000009.10:g.133384080dup | NCBI36 |
| NG_008896.1:g.20971dup | |
| NG_008896.2:g.20971dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1239dup | ENSP00000343034.7:p.Gln414AlafsTer? | |
| ENST00000404875.7:n.1941dup | ||
| ENST00000423007.6:c.1458dup | ENSP00000404119.2:p.Gln487AlafsTer? | |
| ENST00000677295.2:c.*1745dup | ENSP00000504346.2:n.*1745dup | |
| ENST00000678264.2:c.*1584dup | ENSP00000503157.2:n.*1584dup | |
| ENST00000682070.1:n.1866dup | ||
| ENST00000682539.1:c.339dup | ||
| ENST00000682813.1:n.1805dup | ||
| ENST00000683392.1:n.4148dup | ||
| ENST00000683712.1:n.1806dup | ||
| ENST00000683900.1:n.3301dup | ||
| ENST00000684062.1:n.2067dup | ||
| ENST00000684579.1:n.3247dup | ||
| ENST00000684679.1:n.628dup | ||
| ENST00000341012.12:c.1239dup | ENSP00000343034.7:p.Gln414AlafsTer? | |
| ENST00000372220.5:c.270dup | ENSP00000361294.5:p.Gln91AlafsTer? | |
| ENST00000372228.9:c.1467dup | ENSP00000361302.3:p.Gln490AlafsTer? | |
| ENST00000402686.8:c.1401dup MANE Select | ENSP00000385797.4:p.Gln468AlafsTer? | |
| ENST00000676640.1:c.1401dup | ENSP00000503281.1:p.Gln468AlafsTer? | |
| ENST00000676803.1:c.576dup | ENSP00000503093.1:p.Gln193AlafsTer? | |
| ENST00000676835.1:c.*616dup | ENSP00000502911.1:n.*616dup | |
| ENST00000677029.1:c.945dup | ENSP00000502936.1:p.Gln316AlafsTer? | |
| ENST00000677099.1:c.*1111dup | ENSP00000504553.1:n.*1111dup | |
| ENST00000677216.1:c.1050dup | ENSP00000503772.1:p.Gln351AlafsTer? | |
| ENST00000677221.1:n.426dup | ||
| ENST00000677295.1:c.*778dup | ENSP00000504346.1:n.*778dup | |
| ENST00000677444.1:c.1346dup | ||
| ENST00000677586.1:n.882dup | ||
| ENST00000677626.1:c.1050dup | ENSP00000503552.1:p.Gln351AlafsTer? | |
| ENST00000677677.1:n.1361dup | ||
| ENST00000677853.1:c.*409dup | ENSP00000503488.1:n.*409dup | |
| ENST00000678202.1:n.560dup | ||
| ENST00000678264.1:c.*778dup | ENSP00000503157.1:n.*778dup | |
| ENST00000678303.1:c.1311dup | ENSP00000503696.1:p.Gln438AlafsTer? | |
| ENST00000678366.1:c.*1650dup | ENSP00000504353.1:n.*1650dup | |
| ENST00000678546.1:c.*1346dup | ENSP00000503062.1:n.*1346dup | |
| ENST00000678548.1:c.*1473dup | ENSP00000503934.1:n.*1473dup | |
| ENST00000678626.1:n.1237dup | ||
| ENST00000678733.1:c.482dup | ||
| ENST00000678739.1:c.*1727dup | ENSP00000503806.1:n.*1727dup | |
| ENST00000678833.1:c.*848dup | ENSP00000503893.1:n.*848dup | |
| ENST00000679023.1:c.1239dup | ENSP00000503718.1:p.Gln414AlafsTer? | |
| ENST00000679076.1:c.1020dup | ||
| ENST00000679111.1:c.*157dup | ENSP00000504257.1:n.*157dup | |
| ENST00000679189.1:c.1050dup | ENSP00000503356.1:p.Gln351AlafsTer? | |
| ENST00000341012.11:c.1239dup | ENSP00000343034.7:p.Gln414AlafsTer? | |
| ENST00000372220.4:c.264dup | ENSP00000361294.4:p.Gln89AlafsTer? | |
| ENST00000372228.7:c.1467dup | ENSP00000361302.3:p.Gln490AlafsTer? | |
| ENST00000402686.7:c.1401dup | ENSP00000385797.3:p.Gln468AlafsTer? | |
| ENST00000404875.6:c.1050dup | ENSP00000384531.2:p.Gln351AlafsTer? | |
| ENST00000423007.5:c.1401dup | ENSP00000404119.1:p.Gln468AlafsTer? | |
| ENST00000467848.1:n.105dup | ||
| ENST00000485278.5:n.1956dup | ||
| NM_001077365.1:c.1401dup | NP_001070833.1:p.Gln468AlafsTer? | |
| NM_001077366.1:c.1239dup | NP_001070834.1:p.Gln414AlafsTer? | |
| NM_001136113.1:c.1401dup | NP_001129585.1:p.Gln468AlafsTer? | |
| NM_001136114.1:c.1050dup | NP_001129586.1:p.Gln351AlafsTer? | |
| NM_007171.3:c.1467dup | NP_009102.3:p.Gln490AlafsTer? | |
| XM_005272156.1:c.1467dup | XP_005272213.1:p.Gln490AlafsTer? | |
| XM_005272158.1:c.1305dup | XP_005272215.1:p.Gln436AlafsTer? | |
| XM_005272159.1:c.1116dup | XP_005272216.1:p.Gln373AlafsTer? | |
| XM_005272162.1:c.270dup | XP_005272219.1:p.Gln91AlafsTer? | |
| XM_006716932.1:c.1116dup | XP_006716995.1:p.Gln373AlafsTer? | |
| XM_011518140.1:c.1320dup | XP_011516442.1:p.Gln441AlafsTer? | |
| XM_011518141.1:c.1254dup | XP_011516443.1:p.Gln419AlafsTer? | |
| XM_011518142.1:c.1158dup | XP_011516444.1:p.Gln387AlafsTer? | |
| XM_011518143.1:c.1152dup | XP_011516445.1:p.Gln385AlafsTer? | |
| XM_011518144.1:c.*157dup | XP_011516446.1:n.*157dup | |
| XM_011518145.1:c.1011dup | XP_011516447.1:p.Gln338AlafsTer? | |
| XM_011518146.1:c.*157dup | XP_011516448.1:n.*157dup | |
| XM_011518147.1:c.339dup | XP_011516449.1:p.Gln114AlafsTer? | |
| XR_929703.1:n.1643dup | ||
| NM_001353193.1:c.1467dup | NP_001340122.1:p.Gln490AlafsTer? | |
| NM_001353194.1:c.1239dup | NP_001340123.1:p.Gln414AlafsTer? | |
| NM_001353195.1:c.1050dup | NP_001340124.1:p.Gln351AlafsTer? | |
| NM_001353196.1:c.1311dup | NP_001340125.1:p.Gln438AlafsTer? | |
| NM_001353197.1:c.1305dup | NP_001340126.1:p.Gln436AlafsTer? | |
| NM_001353198.1:c.1305dup | NP_001340127.1:p.Gln436AlafsTer? | |
| NM_001353199.1:c.1116dup | NP_001340128.1:p.Gln373AlafsTer? | |
| NM_001353200.1:c.945dup | NP_001340129.1:p.Gln316AlafsTer? | |
| NR_148391.1:n.1451dup | ||
| NR_148392.1:n.1669dup | ||
| NR_148393.1:n.1590dup | ||
| NR_148394.1:n.1344dup | ||
| NR_148395.1:n.1742dup | ||
| NR_148396.1:n.1376dup | ||
| NR_148397.1:n.1501dup | ||
| NR_148398.1:n.1456dup | ||
| NR_148399.1:n.1982dup | ||
| NR_148400.1:n.1581dup | ||
| XM_005272162.3:c.270dup | XP_005272219.1:p.Gln91AlafsTer? | |
| XM_006716932.2:c.1116dup | XP_006716995.1:p.Gln373AlafsTer? | |
| XM_011518140.2:c.1320dup | XP_011516442.1:p.Gln441AlafsTer? | |
| XM_011518141.2:c.1254dup | XP_011516443.1:p.Gln419AlafsTer? | |
| XM_011518142.2:c.1158dup | XP_011516444.1:p.Gln387AlafsTer? | |
| XM_011518143.2:c.1152dup | XP_011516445.1:p.Gln385AlafsTer? | |
| XM_011518145.2:c.1011dup | XP_011516447.1:p.Gln338AlafsTer? | |
| XM_017014205.2:c.270dup | XP_016869694.1:p.Gln91AlafsTer? | |
| XM_024447380.1:c.270dup | XP_024303148.1:p.Gln91AlafsTer? | |
| XM_024447381.1:c.576dup | XP_024303149.1:p.Gln193AlafsTer? | |
| XM_024447382.1:c.270dup | XP_024303150.1:p.Gln91AlafsTer? | |
| XR_001746160.2:n.1571dup | ||
| XR_001746162.2:n.1776dup | ||
| XR_001746164.1:n.1493dup | ||
| XR_001746166.2:n.1788dup | ||
| NM_001077365.2:c.1401dup MANE Select | NP_001070833.1:p.Gln468AlafsTer? | |
| NM_001077366.2:c.1239dup | NP_001070834.1:p.Gln414AlafsTer? | |
| NM_001136113.2:c.1401dup | NP_001129585.1:p.Gln468AlafsTer? | |
| NM_001136114.2:c.1050dup | NP_001129586.1:p.Gln351AlafsTer? | |
| NM_001353193.2:c.1467dup | NP_001340122.2:p.Gln490AlafsTer? | |
| NM_001353194.2:c.1239dup | NP_001340123.1:p.Gln414AlafsTer? | |
| NM_001353195.2:c.1050dup | NP_001340124.1:p.Gln351AlafsTer? | |
| NM_001353196.2:c.1311dup | NP_001340125.1:p.Gln438AlafsTer? | |
| NM_001353197.2:c.1305dup | NP_001340126.2:p.Gln436AlafsTer? | |
| NM_001353198.2:c.1305dup | NP_001340127.2:p.Gln436AlafsTer? | |
| NM_001353199.2:c.1116dup | NP_001340128.2:p.Gln373AlafsTer? | |
| NM_001353200.2:c.945dup | NP_001340129.1:p.Gln316AlafsTer? | |
| NM_001374689.1:c.1389dup | NP_001361618.1:p.Gln464AlafsTer? | |
| NM_001374690.1:c.1365+335dup | NP_001361619.1:n.1365+335dup | |
| NM_001374691.1:c.1050dup | NP_001361620.1:p.Gln351AlafsTer? | |
| NM_001374692.1:c.1050dup | NP_001361621.1:p.Gln351AlafsTer? | |
| NM_001374693.1:c.1050dup | NP_001361622.1:p.Gln351AlafsTer? | |
| NM_001374695.1:c.1011dup | NP_001361624.1:p.Gln338AlafsTer? | |
| NM_007171.4:c.1467dup | NP_009102.4:p.Gln490AlafsTer? | |
| NR_148391.2:n.1435dup | ||
| NR_148392.2:n.1653dup | ||
| NR_148393.2:n.1574dup | ||
| NR_148394.2:n.1328dup | ||
| NR_148395.2:n.1726dup | ||
| NR_148396.2:n.1360dup | ||
| NR_148397.2:n.1485dup | ||
| NR_148398.2:n.1440dup | ||
| NR_148399.2:n.1966dup | ||
| NR_148400.2:n.1565dup |