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.131521347_131522225del , CM000671.2:g.131521347_131522225del | GRCh38 |
| NC_000009.11:g.134396734_134397612del , CM000671.1:g.134396734_134397612del | GRCh37 |
| NC_000009.10:g.133386555_133387433del | NCBI36 |
| NG_008896.1:g.23446_24324del | |
| NG_008896.2:g.23446_24324del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1538_1841+1del | ||
| ENST00000404875.7:n.2240_2543+1del | ||
| ENST00000423007.6:c.1757_2060+1del | ||
| ENST00000677295.2:c.*2044_*2347+1del | ||
| ENST00000678264.2:c.*1883_*2186+1del | ||
| ENST00000682070.1:n.2165_2313+1del | ||
| ENST00000682813.1:n.2104_2407+1del | ||
| ENST00000683392.1:n.4447_4595+1del | ||
| ENST00000683712.1:n.2105_2408+1del | ||
| ENST00000683900.1:n.3600_3903+1del | ||
| ENST00000684062.1:n.2366_2669+1del | ||
| ENST00000684579.1:n.3546_3849+1del | ||
| ENST00000341012.12:c.1538_1841+1del | ||
| ENST00000372220.5:c.569_872+1del | ||
| ENST00000372228.9:c.1766_2069+1del | ||
| ENST00000402686.8:c.1700_2003+1del | ||
| ENST00000676640.1:c.1700_2003+1del | ||
| ENST00000676803.1:c.761_1064+1del | ||
| ENST00000676835.1:c.*915_*1218+1del | ||
| ENST00000677029.1:c.1244_1547+1del | ||
| ENST00000677099.1:c.*1410_*1713+1del | ||
| ENST00000677216.1:c.1349_1652+1del | ||
| ENST00000677221.1:n.725_1028+1del | ||
| ENST00000677295.1:c.*1077_*1225+1del | ||
| ENST00000677444.1:c.1645_1948+1del | ||
| ENST00000677586.1:n.1067_1370+1del | ||
| ENST00000677626.1:c.1349_1652+1del | ||
| ENST00000677853.1:c.*708_*1011+1del | ||
| ENST00000678264.1:c.*1077_*1380+1del | ||
| ENST00000678303.1:c.1610_1913+1del | ||
| ENST00000678366.1:c.*1949_*2252+1del | ||
| ENST00000678546.1:c.*1645_*1948+1del | ||
| ENST00000678548.1:c.*1772_*2142+1del | ||
| ENST00000678626.1:n.1536_1839+1del | ||
| ENST00000678739.1:c.*2021_*2169+1del | ||
| ENST00000678833.1:c.*1452_*1755+1del | ||
| ENST00000679023.1:c.1538_1841+1del | ||
| ENST00000679076.1:c.1319_1622+1del | ||
| ENST00000679111.1:c.*456_*759+1del | ||
| ENST00000679189.1:c.1349_1652+1del | ||
| ENST00000341012.11:c.1538_1841+1del | ||
| ENST00000372220.4:c.563_866+1del | ||
| ENST00000372228.7:c.1766_2069+1del | ||
| ENST00000402686.7:c.1700_2003+1del | ||
| ENST00000404875.6:c.1349_1652+1del | ||
| ENST00000423007.5:c.1700_2003+1del | ||
| ENST00000485278.5:n.2250_2553+1del | ||
| ENST00000494883.1:n.243_547del | ||
| NM_001077365.1:c.1700_2003+1del | ||
| NM_001077366.1:c.1538_1841+1del | ||
| NM_001136113.1:c.1700_2003+1del | ||
| NM_001136114.1:c.1349_1652+1del | ||
| NM_007171.3:c.1766_2069+1del | ||
| XM_005272156.1:c.1766_2069+1del | ||
| XM_005272158.1:c.1604_1907+1del | ||
| XM_005272159.1:c.1415_1718+1del | ||
| XM_005272162.1:c.569_872+1del | ||
| XM_006716932.1:c.1415_1718+1del | ||
| XM_011518140.1:c.1619_1922+1del | ||
| XM_011518141.1:c.1553_1856+1del | ||
| XM_011518142.1:c.1457_1760+1del | ||
| XM_011518143.1:c.1451_1754+1del | ||
| XM_011518145.1:c.1310_1613+1del | ||
| XM_011518147.1:c.638_941+1del | ||
| XR_929703.1:n.1942_2245+1del | ||
| NM_001353193.1:c.1766_2069+1del | ||
| NM_001353194.1:c.1538_1841+1del | ||
| NM_001353195.1:c.1349_1652+1del | ||
| NM_001353196.1:c.1610_1913+1del | ||
| NM_001353197.1:c.1604_1907+1del | ||
| NM_001353198.1:c.1604_1907+1del | ||
| NM_001353199.1:c.1415_1718+1del | ||
| NM_001353200.1:c.1244_1547+1del | ||
| NR_148391.1:n.1750_2053+1del | ||
| NR_148392.1:n.1968_2271+1del | ||
| NR_148393.1:n.1889_2192+1del | ||
| NR_148394.1:n.1643_1946+1del | ||
| NR_148395.1:n.2041_2344+1del | ||
| NR_148396.1:n.1675_1978+1del | ||
| NR_148397.1:n.1800_2103+1del | ||
| NR_148398.1:n.1755_2058+1del | ||
| NR_148399.1:n.2281_2584+1del | ||
| NR_148400.1:n.1880_2183+1del | ||
| XM_005272162.3:c.569_872+1del | ||
| XM_006716932.2:c.1415_1718+1del | ||
| XM_011518140.2:c.1619_1922+1del | ||
| XM_011518141.2:c.1553_1856+1del | ||
| XM_011518142.2:c.1457_1760+1del | ||
| XM_011518143.2:c.1451_1754+1del | ||
| XM_011518145.2:c.1310_1613+1del | ||
| XM_017014205.2:c.569_872+1del | ||
| XM_024447380.1:c.569_872+1del | ||
| XM_024447381.1:c.875_1178+1del | ||
| XM_024447382.1:c.569_872+1del | ||
| XR_001746160.2:n.1870_2173+1del | ||
| XR_001746162.2:n.2075_2378+1del | ||
| XR_001746164.1:n.1792_2095+1del | ||
| XR_001746166.2:n.2087_2390+1del | ||
| NM_001077365.2:c.1700_2003+1del | ||
| NM_001077366.2:c.1538_1841+1del | ||
| NM_001136113.2:c.1700_2003+1del | ||
| NM_001136114.2:c.1349_1652+1del | ||
| NM_001353193.2:c.1766_2069+1del | ||
| NM_001353194.2:c.1538_1841+1del | ||
| NM_001353195.2:c.1349_1652+1del | ||
| NM_001353196.2:c.1610_1913+1del | ||
| NM_001353197.2:c.1604_1907+1del | ||
| NM_001353198.2:c.1604_1907+1del | ||
| NM_001353199.2:c.1415_1718+1del | ||
| NM_001353200.2:c.1244_1547+1del | ||
| NM_001374689.1:c.1688_1991+1del | ||
| NM_001374690.1:c.1481_1784+1del | ||
| NM_001374691.1:c.1349_1652+1del | ||
| NM_001374692.1:c.1349_1652+1del | ||
| NM_001374693.1:c.1349_1652+1del | ||
| NM_001374695.1:c.1310_1613+1del | ||
| NM_007171.4:c.1766_2069+1del | ||
| NR_148391.2:n.1734_2037+1del | ||
| NR_148392.2:n.1952_2255+1del | ||
| NR_148393.2:n.1873_2176+1del | ||
| NR_148394.2:n.1627_1930+1del | ||
| NR_148395.2:n.2025_2328+1del | ||
| NR_148396.2:n.1659_1962+1del | ||
| NR_148397.2:n.1784_2087+1del | ||
| NR_148398.2:n.1739_2042+1del | ||
| NR_148399.2:n.2265_2568+1del | ||
| NR_148400.2:n.1864_2167+1del |