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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131518745G= , CM000671.2:g.131518745G= | GRCh38 |
| NC_000009.11:g.134394132G= , CM000671.1:g.134394132G= | GRCh37 |
| NC_000009.10:g.133383953G= | NCBI36 |
| NG_008896.1:g.20844G= | |
| NG_008896.2:g.20844G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1204-92G= | ENSP00000343034.7:n.1204-92G= | |
| ENST00000404875.7:n.1906-92G= | ||
| ENST00000423007.6:c.1423-92G= | ENSP00000404119.2:n.1423-92G= | |
| ENST00000677295.2:c.*1710-92G= | ENSP00000504346.2:n.*1710-92G= | |
| ENST00000678264.2:c.*1549-92G= | ENSP00000503157.2:n.*1549-92G= | |
| ENST00000682070.1:n.1831-92G= | ||
| ENST00000682539.1:c.304-92G= | ||
| ENST00000682813.1:n.1678G= | ||
| ENST00000683110.1:n.111G= | ||
| ENST00000683392.1:n.4113-92G= | ||
| ENST00000683712.1:n.1771-92G= | ||
| ENST00000683900.1:n.3266-92G= | ||
| ENST00000684062.1:n.2032-92G= | ||
| ENST00000684579.1:n.3212-92G= | ||
| ENST00000684679.1:n.593-92G= | ||
| ENST00000341012.12:c.1204-92G= | ENSP00000343034.7:n.1204-92G= | |
| ENST00000372220.5:c.235-92G= | ENSP00000361294.5:n.235-92G= | |
| ENST00000372228.9:c.1432-92G= | ENSP00000361302.3:n.1432-92G= | |
| ENST00000402686.8:c.1366-92G= MANE Select | ENSP00000385797.4:n.1366-92G= | |
| ENST00000676640.1:c.1366-92G= | ENSP00000503281.1:n.1366-92G= | |
| ENST00000676803.1:c.541-92G= | ENSP00000503093.1:n.541-92G= | |
| ENST00000676835.1:c.*581-92G= | ENSP00000502911.1:n.*581-92G= | |
| ENST00000677029.1:c.910-92G= | ENSP00000502936.1:n.910-92G= | |
| ENST00000677099.1:c.*1076-92G= | ENSP00000504553.1:n.*1076-92G= | |
| ENST00000677216.1:c.1015-92G= | ENSP00000503772.1:n.1015-92G= | |
| ENST00000677221.1:n.391-92G= | ||
| ENST00000677295.1:c.*743-92G= | ENSP00000504346.1:n.*743-92G= | |
| ENST00000677444.1:c.1219G= | ||
| ENST00000677586.1:n.847-92G= | ||
| ENST00000677626.1:c.1015-92G= | ENSP00000503552.1:n.1015-92G= | |
| ENST00000677677.1:n.1326-92G= | ||
| ENST00000677853.1:c.*374-92G= | ENSP00000503488.1:n.*374-92G= | |
| ENST00000677983.1:n.502G= | ||
| ENST00000678202.1:n.433G= | ||
| ENST00000678264.1:c.*743-92G= | ENSP00000503157.1:n.*743-92G= | |
| ENST00000678303.1:c.1276-92G= | ENSP00000503696.1:n.1276-92G= | |
| ENST00000678366.1:c.*1615-92G= | ENSP00000504353.1:n.*1615-92G= | |
| ENST00000678546.1:c.*1311-92G= | ENSP00000503062.1:n.*1311-92G= | |
| ENST00000678548.1:c.*1438-92G= | ENSP00000503934.1:n.*1438-92G= | |
| ENST00000678626.1:n.1110G= | ||
| ENST00000678733.1:c.447-92G= | ||
| ENST00000678739.1:c.*1692-92G= | ENSP00000503806.1:n.*1692-92G= | |
| ENST00000678795.1:n.500G= | ||
| ENST00000678833.1:c.*813-92G= | ENSP00000503893.1:n.*813-92G= | |
| ENST00000679023.1:c.1204-92G= | ENSP00000503718.1:n.1204-92G= | |
| ENST00000679076.1:c.985-92G= | ||
| ENST00000679111.1:c.*30G= | ENSP00000504257.1:n.*30G= | |
| ENST00000679189.1:c.1015-92G= | ENSP00000503356.1:n.1015-92G= | |
| ENST00000341012.11:c.1204-92G= | ENSP00000343034.7:n.1204-92G= | |
| ENST00000372220.4:c.229-92G= | ENSP00000361294.4:n.229-92G= | |
| ENST00000372228.7:c.1432-92G= | ENSP00000361302.3:n.1432-92G= | |
| ENST00000402686.7:c.1366-92G= | ENSP00000385797.3:n.1366-92G= | |
| ENST00000404875.6:c.1015-92G= | ENSP00000384531.2:n.1015-92G= | |
| ENST00000423007.5:c.1366-92G= | ENSP00000404119.1:n.1366-92G= | |
| ENST00000485278.5:n.1921-92G= | ||
| NM_001077365.1:c.1366-92G= | NP_001070833.1:n.1366-92G= | |
| NM_001077366.1:c.1204-92G= | NP_001070834.1:n.1204-92G= | |
| NM_001136113.1:c.1366-92G= | NP_001129585.1:n.1366-92G= | |
| NM_001136114.1:c.1015-92G= | NP_001129586.1:n.1015-92G= | |
| NM_007171.3:c.1432-92G= | NP_009102.3:n.1432-92G= | |
| XM_005272156.1:c.1432-92G= | XP_005272213.1:n.1432-92G= | |
| XM_005272158.1:c.1270-92G= | XP_005272215.1:n.1270-92G= | |
| XM_005272159.1:c.1081-92G= | XP_005272216.1:n.1081-92G= | |
| XM_005272162.1:c.235-92G= | XP_005272219.1:n.235-92G= | |
| XM_006716932.1:c.1081-92G= | XP_006716995.1:n.1081-92G= | |
| XM_011518140.1:c.1285-92G= | XP_011516442.1:n.1285-92G= | |
| XM_011518141.1:c.1219-92G= | XP_011516443.1:n.1219-92G= | |
| XM_011518142.1:c.1123-92G= | XP_011516444.1:n.1123-92G= | |
| XM_011518143.1:c.1117-92G= | XP_011516445.1:n.1117-92G= | |
| XM_011518144.1:c.*30G= | XP_011516446.1:n.*30G= | |
| XM_011518145.1:c.976-92G= | XP_011516447.1:n.976-92G= | |
| XM_011518146.1:c.*30G= | XP_011516448.1:n.*30G= | |
| XM_011518147.1:c.304-92G= | XP_011516449.1:n.304-92G= | |
| XR_929703.1:n.1608-92G= | ||
| NM_001353193.1:c.1432-92G= | NP_001340122.1:n.1432-92G= | |
| NM_001353194.1:c.1204-92G= | NP_001340123.1:n.1204-92G= | |
| NM_001353195.1:c.1015-92G= | NP_001340124.1:n.1015-92G= | |
| NM_001353196.1:c.1276-92G= | NP_001340125.1:n.1276-92G= | |
| NM_001353197.1:c.1270-92G= | NP_001340126.1:n.1270-92G= | |
| NM_001353198.1:c.1270-92G= | NP_001340127.1:n.1270-92G= | |
| NM_001353199.1:c.1081-92G= | NP_001340128.1:n.1081-92G= | |
| NM_001353200.1:c.910-92G= | NP_001340129.1:n.910-92G= | |
| NR_148391.1:n.1416-92G= | ||
| NR_148392.1:n.1634-92G= | ||
| NR_148393.1:n.1463G= | ||
| NR_148394.1:n.1309-92G= | ||
| NR_148395.1:n.1615G= | ||
| NR_148396.1:n.1249G= | ||
| NR_148397.1:n.1466-92G= | ||
| NR_148398.1:n.1421-92G= | ||
| NR_148399.1:n.1855G= | ||
| NR_148400.1:n.1454G= | ||
| XM_005272162.3:c.235-92G= | XP_005272219.1:n.235-92G= | |
| XM_006716932.2:c.1081-92G= | XP_006716995.1:n.1081-92G= | |
| XM_011518140.2:c.1285-92G= | XP_011516442.1:n.1285-92G= | |
| XM_011518141.2:c.1219-92G= | XP_011516443.1:n.1219-92G= | |
| XM_011518142.2:c.1123-92G= | XP_011516444.1:n.1123-92G= | |
| XM_011518143.2:c.1117-92G= | XP_011516445.1:n.1117-92G= | |
| XM_011518145.2:c.976-92G= | XP_011516447.1:n.976-92G= | |
| XM_017014205.2:c.235-92G= | XP_016869694.1:n.235-92G= | |
| XM_024447380.1:c.235-92G= | XP_024303148.1:n.235-92G= | |
| XM_024447381.1:c.541-92G= | XP_024303149.1:n.541-92G= | |
| XM_024447382.1:c.235-92G= | XP_024303150.1:n.235-92G= | |
| XR_001746160.2:n.1536-92G= | ||
| XR_001746162.2:n.1649G= | ||
| XR_001746164.1:n.1366G= | ||
| XR_001746166.2:n.1753-92G= | ||
| NM_001077365.2:c.1366-92G= MANE Select | NP_001070833.1:n.1366-92G= | |
| NM_001077366.2:c.1204-92G= | NP_001070834.1:n.1204-92G= | |
| NM_001136113.2:c.1366-92G= | NP_001129585.1:n.1366-92G= | |
| NM_001136114.2:c.1015-92G= | NP_001129586.1:n.1015-92G= | |
| NM_001353193.2:c.1432-92G= | NP_001340122.2:n.1432-92G= | |
| NM_001353194.2:c.1204-92G= | NP_001340123.1:n.1204-92G= | |
| NM_001353195.2:c.1015-92G= | NP_001340124.1:n.1015-92G= | |
| NM_001353196.2:c.1276-92G= | NP_001340125.1:n.1276-92G= | |
| NM_001353197.2:c.1270-92G= | NP_001340126.2:n.1270-92G= | |
| NM_001353198.2:c.1270-92G= | NP_001340127.2:n.1270-92G= | |
| NM_001353199.2:c.1081-92G= | NP_001340128.2:n.1081-92G= | |
| NM_001353200.2:c.910-92G= | NP_001340129.1:n.910-92G= | |
| NM_001374689.1:c.1354-92G= | NP_001361618.1:n.1354-92G= | |
| NM_001374690.1:c.1365+208G= | NP_001361619.1:n.1365+208G= | |
| NM_001374691.1:c.1015-92G= | NP_001361620.1:n.1015-92G= | |
| NM_001374692.1:c.1015-92G= | NP_001361621.1:n.1015-92G= | |
| NM_001374693.1:c.1015-92G= | NP_001361622.1:n.1015-92G= | |
| NM_001374695.1:c.976-92G= | NP_001361624.1:n.976-92G= | |
| NM_007171.4:c.1432-92G= | NP_009102.4:n.1432-92G= | |
| NR_148391.2:n.1400-92G= | ||
| NR_148392.2:n.1618-92G= | ||
| NR_148393.2:n.1447G= | ||
| NR_148394.2:n.1293-92G= | ||
| NR_148395.2:n.1599G= | ||
| NR_148396.2:n.1233G= | ||
| NR_148397.2:n.1450-92G= | ||
| NR_148398.2:n.1405-92G= | ||
| NR_148399.2:n.1839G= | ||
| NR_148400.2:n.1438G= |