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.131518046C= , CM000671.2:g.131518046C= | GRCh38 |
| NC_000009.11:g.134393433C= , CM000671.1:g.134393433C= | GRCh37 |
| NC_000009.10:g.133383254C= | NCBI36 |
| NG_008896.1:g.20145C= | |
| NG_008896.2:g.20145C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1111-399C= | ENSP00000343034.7:n.1111-399C= | |
| ENST00000404875.7:n.1813-399C= | ||
| ENST00000423007.6:c.1330-399C= | ENSP00000404119.2:n.1330-399C= | |
| ENST00000677295.2:c.*1617-399C= | ENSP00000504346.2:n.*1617-399C= | |
| ENST00000678264.2:c.*1456-399C= | ENSP00000503157.2:n.*1456-399C= | |
| ENST00000682070.1:n.1738-399C= | ||
| ENST00000682539.1:c.211-399C= | ||
| ENST00000682813.1:n.1538-399C= | ||
| ENST00000683392.1:n.4020-399C= | ||
| ENST00000683712.1:n.1678-399C= | ||
| ENST00000683900.1:n.3173-399C= | ||
| ENST00000684062.1:n.1939-399C= | ||
| ENST00000684579.1:n.3119-399C= | ||
| ENST00000684679.1:n.500-399C= | ||
| ENST00000341012.12:c.1111-399C= | ENSP00000343034.7:n.1111-399C= | |
| ENST00000372220.5:c.142-399C= | ENSP00000361294.5:n.142-399C= | |
| ENST00000372228.9:c.1339-399C= | ENSP00000361302.3:n.1339-399C= | |
| ENST00000402686.8:c.1273-399C= MANE Select | ENSP00000385797.4:n.1273-399C= | |
| ENST00000676640.1:c.1273-399C= | ENSP00000503281.1:n.1273-399C= | |
| ENST00000676803.1:c.448-399C= | ENSP00000503093.1:n.448-399C= | |
| ENST00000676835.1:c.*488-399C= | ENSP00000502911.1:n.*488-399C= | |
| ENST00000677029.1:c.817-399C= | ENSP00000502936.1:n.817-399C= | |
| ENST00000677099.1:c.*983-399C= | ENSP00000504553.1:n.*983-399C= | |
| ENST00000677216.1:c.922-399C= | ENSP00000503772.1:n.922-399C= | |
| ENST00000677295.1:c.*650-399C= | ENSP00000504346.1:n.*650-399C= | |
| ENST00000677444.1:c.1079-399C= | ||
| ENST00000677586.1:n.754-399C= | ||
| ENST00000677626.1:c.922-399C= | ENSP00000503552.1:n.922-399C= | |
| ENST00000677677.1:n.1233-399C= | ||
| ENST00000677853.1:c.*281-399C= | ENSP00000503488.1:n.*281-399C= | |
| ENST00000677944.1:c.535-399C= | ||
| ENST00000677983.1:n.54C= | ||
| ENST00000678202.1:n.47C= | ||
| ENST00000678264.1:c.*650-399C= | ENSP00000503157.1:n.*650-399C= | |
| ENST00000678303.1:c.1183-399C= | ENSP00000503696.1:n.1183-399C= | |
| ENST00000678366.1:c.*1522-399C= | ENSP00000504353.1:n.*1522-399C= | |
| ENST00000678546.1:c.*1218-399C= | ENSP00000503062.1:n.*1218-399C= | |
| ENST00000678548.1:c.*1345-399C= | ENSP00000503934.1:n.*1345-399C= | |
| ENST00000678626.1:n.970-399C= | ||
| ENST00000678733.1:c.354-399C= | ||
| ENST00000678739.1:c.*1599-399C= | ENSP00000503806.1:n.*1599-399C= | |
| ENST00000678795.1:n.360-399C= | ||
| ENST00000678833.1:c.*720-399C= | ENSP00000503893.1:n.*720-399C= | |
| ENST00000678942.1:c.453-399C= | ENSP00000504690.1:n.453-399C= | |
| ENST00000679023.1:c.1111-399C= | ENSP00000503718.1:n.1111-399C= | |
| ENST00000679076.1:c.892-399C= | ||
| ENST00000679111.1:c.1273-399C= | ENSP00000504257.1:n.1273-399C= | |
| ENST00000679189.1:c.922-399C= | ENSP00000503356.1:n.922-399C= | |
| ENST00000341012.11:c.1111-399C= | ENSP00000343034.7:n.1111-399C= | |
| ENST00000372228.7:c.1339-399C= | ENSP00000361302.3:n.1339-399C= | |
| ENST00000402686.7:c.1273-399C= | ENSP00000385797.3:n.1273-399C= | |
| ENST00000404875.6:c.922-399C= | ENSP00000384531.2:n.922-399C= | |
| ENST00000423007.5:c.1273-399C= | ENSP00000404119.1:n.1273-399C= | |
| ENST00000485278.5:n.1828-399C= | ||
| NM_001077365.1:c.1273-399C= | NP_001070833.1:n.1273-399C= | |
| NM_001077366.1:c.1111-399C= | NP_001070834.1:n.1111-399C= | |
| NM_001136113.1:c.1273-399C= | NP_001129585.1:n.1273-399C= | |
| NM_001136114.1:c.922-399C= | NP_001129586.1:n.922-399C= | |
| NM_007171.3:c.1339-399C= | NP_009102.3:n.1339-399C= | |
| XM_005272156.1:c.1339-399C= | XP_005272213.1:n.1339-399C= | |
| XM_005272158.1:c.1177-399C= | XP_005272215.1:n.1177-399C= | |
| XM_005272159.1:c.988-399C= | XP_005272216.1:n.988-399C= | |
| XM_005272162.1:c.142-399C= | XP_005272219.1:n.142-399C= | |
| XM_006716932.1:c.988-399C= | XP_006716995.1:n.988-399C= | |
| XM_011518140.1:c.1192-399C= | XP_011516442.1:n.1192-399C= | |
| XM_011518141.1:c.1126-399C= | XP_011516443.1:n.1126-399C= | |
| XM_011518142.1:c.1030-399C= | XP_011516444.1:n.1030-399C= | |
| XM_011518143.1:c.1024-399C= | XP_011516445.1:n.1024-399C= | |
| XM_011518144.1:c.1339-399C= | XP_011516446.1:n.1339-399C= | |
| XM_011518145.1:c.883-399C= | XP_011516447.1:n.883-399C= | |
| XM_011518146.1:c.1024-399C= | XP_011516448.1:n.1024-399C= | |
| XM_011518147.1:c.-98C= | XP_011516449.1:n.-98C= | |
| XR_929703.1:n.1515-399C= | ||
| NM_001353193.1:c.1339-399C= | NP_001340122.1:n.1339-399C= | |
| NM_001353194.1:c.1111-399C= | NP_001340123.1:n.1111-399C= | |
| NM_001353195.1:c.922-399C= | NP_001340124.1:n.922-399C= | |
| NM_001353196.1:c.1183-399C= | NP_001340125.1:n.1183-399C= | |
| NM_001353197.1:c.1177-399C= | NP_001340126.1:n.1177-399C= | |
| NM_001353198.1:c.1177-399C= | NP_001340127.1:n.1177-399C= | |
| NM_001353199.1:c.988-399C= | NP_001340128.1:n.988-399C= | |
| NM_001353200.1:c.817-399C= | NP_001340129.1:n.817-399C= | |
| NR_148391.1:n.1323-399C= | ||
| NR_148392.1:n.1541-399C= | ||
| NR_148393.1:n.1323-399C= | ||
| NR_148394.1:n.1216-399C= | ||
| NR_148395.1:n.1475-399C= | ||
| NR_148396.1:n.1109-399C= | ||
| NR_148397.1:n.1373-399C= | ||
| NR_148398.1:n.1328-399C= | ||
| NR_148399.1:n.1715-399C= | ||
| NR_148400.1:n.1314-399C= | ||
| XM_005272162.3:c.142-399C= | XP_005272219.1:n.142-399C= | |
| XM_006716932.2:c.988-399C= | XP_006716995.1:n.988-399C= | |
| XM_011518140.2:c.1192-399C= | XP_011516442.1:n.1192-399C= | |
| XM_011518141.2:c.1126-399C= | XP_011516443.1:n.1126-399C= | |
| XM_011518142.2:c.1030-399C= | XP_011516444.1:n.1030-399C= | |
| XM_011518143.2:c.1024-399C= | XP_011516445.1:n.1024-399C= | |
| XM_011518145.2:c.883-399C= | XP_011516447.1:n.883-399C= | |
| XM_017014205.2:c.142-399C= | XP_016869694.1:n.142-399C= | |
| XM_024447380.1:c.142-399C= | XP_024303148.1:n.142-399C= | |
| XM_024447381.1:c.448-399C= | XP_024303149.1:n.448-399C= | |
| XM_024447382.1:c.142-399C= | XP_024303150.1:n.142-399C= | |
| XR_001746160.2:n.1443-399C= | ||
| XR_001746162.2:n.1509-399C= | ||
| XR_001746164.1:n.1226-399C= | ||
| XR_001746166.2:n.1660-399C= | ||
| XR_930402.2:n.393G= | ||
| NM_001077365.2:c.1273-399C= MANE Select | NP_001070833.1:n.1273-399C= | |
| NM_001077366.2:c.1111-399C= | NP_001070834.1:n.1111-399C= | |
| NM_001136113.2:c.1273-399C= | NP_001129585.1:n.1273-399C= | |
| NM_001136114.2:c.922-399C= | NP_001129586.1:n.922-399C= | |
| NM_001353193.2:c.1339-399C= | NP_001340122.2:n.1339-399C= | |
| NM_001353194.2:c.1111-399C= | NP_001340123.1:n.1111-399C= | |
| NM_001353195.2:c.922-399C= | NP_001340124.1:n.922-399C= | |
| NM_001353196.2:c.1183-399C= | NP_001340125.1:n.1183-399C= | |
| NM_001353197.2:c.1177-399C= | NP_001340126.2:n.1177-399C= | |
| NM_001353198.2:c.1177-399C= | NP_001340127.2:n.1177-399C= | |
| NM_001353199.2:c.988-399C= | NP_001340128.2:n.988-399C= | |
| NM_001353200.2:c.817-399C= | NP_001340129.1:n.817-399C= | |
| NM_001374689.1:c.1261-399C= | NP_001361618.1:n.1261-399C= | |
| NM_001374690.1:c.1273-399C= | NP_001361619.1:n.1273-399C= | |
| NM_001374691.1:c.922-399C= | NP_001361620.1:n.922-399C= | |
| NM_001374692.1:c.922-399C= | NP_001361621.1:n.922-399C= | |
| NM_001374693.1:c.922-399C= | NP_001361622.1:n.922-399C= | |
| NM_001374695.1:c.883-399C= | NP_001361624.1:n.883-399C= | |
| NM_007171.4:c.1339-399C= | NP_009102.4:n.1339-399C= | |
| NR_148391.2:n.1307-399C= | ||
| NR_148392.2:n.1525-399C= | ||
| NR_148393.2:n.1307-399C= | ||
| NR_148394.2:n.1200-399C= | ||
| NR_148395.2:n.1459-399C= | ||
| NR_148396.2:n.1093-399C= | ||
| NR_148397.2:n.1357-399C= | ||
| NR_148398.2:n.1312-399C= | ||
| NR_148399.2:n.1699-399C= | ||
| NR_148400.2:n.1298-399C= |