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.131523072_131523075dup , CM000671.2:g.131523072_131523075dup | GRCh38 |
| NC_000009.11:g.134398459_134398462dup , CM000671.1:g.134398459_134398462dup | GRCh37 |
| NC_000009.10:g.133388280_133388283dup | NCBI36 |
| NG_008896.1:g.25171_25174dup | |
| NG_008896.2:g.25171_25174dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1982_1985dup | ENSP00000343034.7:p.Asp662GlufsTer? | |
| ENST00000404875.7:n.2684_2687dup | ||
| ENST00000423007.6:c.2201_2204dup | ENSP00000404119.2:p.Asp735GlufsTer? | |
| ENST00000677295.2:c.*2488_*2491dup | ENSP00000504346.2:n.*2488_*2491dup | |
| ENST00000678264.2:c.*2327_*2330dup | ENSP00000503157.2:n.*2327_*2330dup | |
| ENST00000682070.1:n.2454_2457dup | ||
| ENST00000682639.1:c.141_144dup | ||
| ENST00000682813.1:n.2541_2544dup | ||
| ENST00000683231.1:c.141_144dup | ||
| ENST00000683392.1:n.4736_4739dup | ||
| ENST00000683712.1:n.2549_2552dup | ||
| ENST00000683900.1:n.4044_4047dup | ||
| ENST00000684062.1:n.2810_2813dup | ||
| ENST00000684399.1:c.141_144dup | ||
| ENST00000684579.1:n.3990_3993dup | ||
| ENST00000341012.12:c.1982_1985dup | ENSP00000343034.7:p.Asp662GlufsTer? | |
| ENST00000372220.5:c.1013_1016dup | ENSP00000361294.5:p.Asp339GlufsTer? | |
| ENST00000372228.9:c.2210_2213dup | ENSP00000361302.3:p.Asp738GlufsTer? | |
| ENST00000402686.8:c.2144_2147dup MANE Select | ENSP00000385797.4:p.Asp716GlufsTer? | |
| ENST00000676640.1:c.2144_2147dup | ENSP00000503281.1:p.Asp716GlufsTer? | |
| ENST00000676803.1:c.1205_1208dup | ENSP00000503093.1:p.Asp403GlufsTer? | |
| ENST00000676835.1:c.*1359_*1362dup | ENSP00000502911.1:n.*1359_*1362dup | |
| ENST00000677029.1:c.1688_1691dup | ENSP00000502936.1:p.Asp564GlufsTer? | |
| ENST00000677099.1:c.*1854_*1857dup | ENSP00000504553.1:n.*1854_*1857dup | |
| ENST00000677216.1:c.1793_1796dup | ENSP00000503772.1:p.Asp599GlufsTer? | |
| ENST00000677295.1:c.*1366_*1369dup | ENSP00000504346.1:n.*1366_*1369dup | |
| ENST00000677444.1:c.2089_2092dup | ||
| ENST00000677586.1:n.1511_1514dup | ||
| ENST00000677626.1:c.1793_1796dup | ENSP00000503552.1:p.Asp599GlufsTer? | |
| ENST00000677853.1:c.*1152_*1155dup | ENSP00000503488.1:n.*1152_*1155dup | |
| ENST00000678264.1:c.*1521_*1524dup | ENSP00000503157.1:n.*1521_*1524dup | |
| ENST00000678303.1:c.2054_2057dup | ENSP00000503696.1:p.Asp686GlufsTer? | |
| ENST00000678366.1:c.*2393_*2396dup | ENSP00000504353.1:n.*2393_*2396dup | |
| ENST00000678546.1:c.*2089_*2092dup | ENSP00000503062.1:n.*2089_*2092dup | |
| ENST00000678548.1:c.*2283_*2286dup | ENSP00000503934.1:n.*2283_*2286dup | |
| ENST00000678626.1:n.1980_1983dup | ||
| ENST00000678739.1:c.*2310_*2313dup | ENSP00000503806.1:n.*2310_*2313dup | |
| ENST00000678833.1:c.*1896_*1899dup | ENSP00000503893.1:n.*1896_*1899dup | |
| ENST00000679023.1:c.1982_1985dup | ENSP00000503718.1:p.Asp662GlufsTer? | |
| ENST00000679076.1:c.1763_1766dup | ||
| ENST00000679111.1:c.*900_*903dup | ENSP00000504257.1:n.*900_*903dup | |
| ENST00000679189.1:c.1793_1796dup | ENSP00000503356.1:p.Asp599GlufsTer? | |
| ENST00000341012.11:c.1982_1985dup | ENSP00000343034.7:p.Asp662GlufsTer? | |
| ENST00000372220.4:c.1007_1010dup | ENSP00000361294.4:p.Asp337GlufsTer? | |
| ENST00000372228.7:c.2210_2213dup | ENSP00000361302.3:p.Asp738GlufsTer? | |
| ENST00000402686.7:c.2144_2147dup | ENSP00000385797.3:p.Asp716GlufsTer? | |
| ENST00000404875.6:c.1793_1796dup | ENSP00000384531.2:p.Asp599GlufsTer? | |
| ENST00000423007.5:c.2144_2147dup | ENSP00000404119.1:p.Asp716GlufsTer? | |
| ENST00000485278.5:n.2694_2697dup | ||
| NM_001077365.1:c.2144_2147dup | NP_001070833.1:p.Asp716GlufsTer? | |
| NM_001077366.1:c.1982_1985dup | NP_001070834.1:p.Asp662GlufsTer? | |
| NM_001136113.1:c.2144_2147dup | NP_001129585.1:p.Asp716GlufsTer? | |
| NM_001136114.1:c.1793_1796dup | NP_001129586.1:p.Asp599GlufsTer? | |
| NM_007171.3:c.2210_2213dup | NP_009102.3:p.Asp738GlufsTer? | |
| XM_005272156.1:c.2210_2213dup | XP_005272213.1:p.Asp738GlufsTer? | |
| XM_005272158.1:c.2048_2051dup | XP_005272215.1:p.Asp684GlufsTer? | |
| XM_005272159.1:c.1859_1862dup | XP_005272216.1:p.Asp621GlufsTer? | |
| XM_005272162.1:c.1013_1016dup | XP_005272219.1:p.Asp339GlufsTer? | |
| XM_006716932.1:c.1859_1862dup | XP_006716995.1:p.Asp621GlufsTer? | |
| XM_011518140.1:c.2063_2066dup | XP_011516442.1:p.Asp689GlufsTer? | |
| XM_011518141.1:c.1997_2000dup | XP_011516443.1:p.Asp667GlufsTer? | |
| XM_011518142.1:c.1901_1904dup | XP_011516444.1:p.Asp635GlufsTer? | |
| XM_011518143.1:c.1895_1898dup | XP_011516445.1:p.Asp633GlufsTer? | |
| XM_011518145.1:c.1754_1757dup | XP_011516447.1:p.Asp586GlufsTer? | |
| XM_011518147.1:c.1082_1085dup | XP_011516449.1:p.Asp362GlufsTer? | |
| XR_929703.1:n.2386_2389dup | ||
| NM_001353193.1:c.2210_2213dup | NP_001340122.1:p.Asp738GlufsTer? | |
| NM_001353194.1:c.1982_1985dup | NP_001340123.1:p.Asp662GlufsTer? | |
| NM_001353195.1:c.1793_1796dup | NP_001340124.1:p.Asp599GlufsTer? | |
| NM_001353196.1:c.2054_2057dup | NP_001340125.1:p.Asp686GlufsTer? | |
| NM_001353197.1:c.2048_2051dup | NP_001340126.1:p.Asp684GlufsTer? | |
| NM_001353198.1:c.2048_2051dup | NP_001340127.1:p.Asp684GlufsTer? | |
| NM_001353199.1:c.1859_1862dup | NP_001340128.1:p.Asp621GlufsTer? | |
| NM_001353200.1:c.1688_1691dup | NP_001340129.1:p.Asp564GlufsTer? | |
| NR_148391.1:n.2194_2197dup | ||
| NR_148392.1:n.2412_2415dup | ||
| NR_148393.1:n.2333_2336dup | ||
| NR_148394.1:n.2087_2090dup | ||
| NR_148395.1:n.2485_2488dup | ||
| NR_148396.1:n.2119_2122dup | ||
| NR_148397.1:n.2244_2247dup | ||
| NR_148398.1:n.2199_2202dup | ||
| NR_148399.1:n.2725_2728dup | ||
| NR_148400.1:n.2324_2327dup | ||
| XM_005272162.3:c.1013_1016dup | XP_005272219.1:p.Asp339GlufsTer? | |
| XM_006716932.2:c.1859_1862dup | XP_006716995.1:p.Asp621GlufsTer? | |
| XM_011518140.2:c.2063_2066dup | XP_011516442.1:p.Asp689GlufsTer? | |
| XM_011518141.2:c.1997_2000dup | XP_011516443.1:p.Asp667GlufsTer? | |
| XM_011518142.2:c.1901_1904dup | XP_011516444.1:p.Asp635GlufsTer? | |
| XM_011518143.2:c.1895_1898dup | XP_011516445.1:p.Asp633GlufsTer? | |
| XM_011518145.2:c.1754_1757dup | XP_011516447.1:p.Asp586GlufsTer? | |
| XM_017014205.2:c.1013_1016dup | XP_016869694.1:p.Asp339GlufsTer? | |
| XM_024447380.1:c.1013_1016dup | XP_024303148.1:p.Asp339GlufsTer? | |
| XM_024447381.1:c.1319_1322dup | XP_024303149.1:p.Asp441GlufsTer? | |
| XM_024447382.1:c.1013_1016dup | XP_024303150.1:p.Asp339GlufsTer? | |
| XR_001746160.2:n.2314_2317dup | ||
| XR_001746162.2:n.2519_2522dup | ||
| XR_001746164.1:n.2236_2239dup | ||
| XR_001746166.2:n.2531_2534dup | ||
| NM_001077365.2:c.2144_2147dup MANE Select | NP_001070833.1:p.Asp716GlufsTer? | |
| NM_001077366.2:c.1982_1985dup | NP_001070834.1:p.Asp662GlufsTer? | |
| NM_001136113.2:c.2144_2147dup | NP_001129585.1:p.Asp716GlufsTer? | |
| NM_001136114.2:c.1793_1796dup | NP_001129586.1:p.Asp599GlufsTer? | |
| NM_001353193.2:c.2210_2213dup | NP_001340122.2:p.Asp738GlufsTer? | |
| NM_001353194.2:c.1982_1985dup | NP_001340123.1:p.Asp662GlufsTer? | |
| NM_001353195.2:c.1793_1796dup | NP_001340124.1:p.Asp599GlufsTer? | |
| NM_001353196.2:c.2054_2057dup | NP_001340125.1:p.Asp686GlufsTer? | |
| NM_001353197.2:c.2048_2051dup | NP_001340126.2:p.Asp684GlufsTer? | |
| NM_001353198.2:c.2048_2051dup | NP_001340127.2:p.Asp684GlufsTer? | |
| NM_001353199.2:c.1859_1862dup | NP_001340128.2:p.Asp621GlufsTer? | |
| NM_001353200.2:c.1688_1691dup | NP_001340129.1:p.Asp564GlufsTer? | |
| NM_001374689.1:c.2132_2135dup | NP_001361618.1:p.Asp712GlufsTer? | |
| NM_001374690.1:c.1925_1928dup | NP_001361619.1:p.Asp643GlufsTer? | |
| NM_001374691.1:c.1793_1796dup | NP_001361620.1:p.Asp599GlufsTer? | |
| NM_001374692.1:c.1793_1796dup | NP_001361621.1:p.Asp599GlufsTer? | |
| NM_001374693.1:c.1793_1796dup | NP_001361622.1:p.Asp599GlufsTer? | |
| NM_001374695.1:c.1754_1757dup | NP_001361624.1:p.Asp586GlufsTer? | |
| NM_007171.4:c.2210_2213dup | NP_009102.4:p.Asp738GlufsTer? | |
| NR_148391.2:n.2178_2181dup | ||
| NR_148392.2:n.2396_2399dup | ||
| NR_148393.2:n.2317_2320dup | ||
| NR_148394.2:n.2071_2074dup | ||
| NR_148395.2:n.2469_2472dup | ||
| NR_148396.2:n.2103_2106dup | ||
| NR_148397.2:n.2228_2231dup | ||
| NR_148398.2:n.2183_2186dup | ||
| NR_148399.2:n.2709_2712dup | ||
| NR_148400.2:n.2308_2311dup |