OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.67158464A= , CM000670.2:g.67158464A= | GRCh38 |
| NC_000008.10:g.68070699A= , CM000670.1:g.68070699A= | GRCh37 |
| NC_000008.9:g.68233253A= | NCBI36 |
| NG_034100.1:g.99097A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262210.11:c.2325A= | ENSP00000262210.6:p.Gln775= | |
| ENST00000521324.3:c.131A= | ||
| ENST00000674993.1:c.2349A= | ENSP00000502454.1:p.Gln783= | |
| ENST00000675306.2:c.1983A= | ENSP00000502421.1:p.Gln661= | |
| ENST00000675869.1:c.2064A= | ENSP00000502747.1:p.Gln688= | |
| ENST00000675955.1:c.2178A= | ENSP00000501676.1:p.Gln726= | |
| ENST00000675990.1:n.3588A= | ||
| ENST00000676113.1:c.2217A= | ENSP00000501645.1:p.Gln739= | |
| ENST00000676317.1:c.2244A= | ENSP00000502047.1:p.Gln748= | |
| ENST00000676471.1:c.1992A= | ENSP00000503711.1:p.Gln664= | |
| ENST00000676534.1:n.5185A= | ||
| ENST00000676567.1:c.*883A= | ENSP00000503427.1:n.*883A= | |
| ENST00000676573.1:c.1560A= | ENSP00000504532.1:p.Gln520= | |
| ENST00000676605.1:c.2367A= | ENSP00000503605.1:p.Gln789= | |
| ENST00000676695.1:c.2185A= | ENSP00000503292.1:n.2185A= | |
| ENST00000676697.1:n.3120A= | ||
| ENST00000676804.1:c.562A= | ||
| ENST00000676847.1:c.2238A= | ENSP00000503336.1:p.Gln746= | |
| ENST00000676858.1:c.*220A= | ENSP00000502925.1:n.*220A= | |
| ENST00000676882.1:c.2145A= | ENSP00000504342.1:p.Gln715= | |
| ENST00000676968.1:c.131A= | ||
| ENST00000677009.1:c.2244A= | ENSP00000503297.1:p.Gln748= | |
| ENST00000677052.1:n.1757A= | ||
| ENST00000677131.1:c.131A= | ||
| ENST00000677256.1:c.*1978A= | ENSP00000504102.1:n.*1978A= | |
| ENST00000677430.1:c.2178A= | ENSP00000504177.1:p.Gln726= | |
| ENST00000677455.1:n.2132A= | ||
| ENST00000677473.1:c.*275A= | ENSP00000503534.1:n.*275A= | |
| ENST00000677592.1:c.2226A= | ENSP00000504516.1:p.Gln742= | |
| ENST00000677619.1:c.1605A= | ENSP00000504522.1:p.Gln535= | |
| ENST00000677697.1:n.227A= | ||
| ENST00000677845.1:c.*630A= | ENSP00000503524.1:n.*630A= | |
| ENST00000677855.1:c.1567A= | ENSP00000504757.1:n.1567A= | |
| ENST00000677964.1:c.131A= | ||
| ENST00000678017.1:c.1110A= | ENSP00000504394.1:p.Gln370= | |
| ENST00000678138.1:n.2422A= | ||
| ENST00000678156.1:n.1899A= | ||
| ENST00000678318.1:c.1794A= | ENSP00000503690.1:p.Gln598= | |
| ENST00000678362.1:c.*1036A= | ENSP00000504317.1:n.*1036A= | |
| ENST00000678542.1:c.2367A= | ENSP00000503878.1:p.Gln789= | |
| ENST00000678616.1:c.2259A= MANE Select | ENSP00000504733.1:p.Gln753= | |
| ENST00000678635.1:n.754A= | ||
| ENST00000678645.1:c.2136A= | ENSP00000504031.1:p.Gln712= | |
| ENST00000678723.1:c.131A= | ||
| ENST00000678747.1:c.1686A= | ENSP00000503390.1:p.Gln562= | |
| ENST00000678807.1:n.1294A= | ||
| ENST00000678895.1:c.131A= | ||
| ENST00000679042.1:n.3084A= | ||
| ENST00000679112.1:c.*2158A= | ENSP00000503739.1:n.*2158A= | |
| ENST00000679226.1:c.1983A= | ENSP00000503601.1:p.Gln661= | |
| ENST00000679274.1:n.1183A= | ||
| ENST00000679295.1:n.1230A= | ||
| ENST00000262210.9:c.2244A= | ENSP00000262210.5:p.Gln748= | |
| ENST00000519163.6:c.*2510A= | ENSP00000428694.1:n.*2510A= | |
| ENST00000519668.1:c.1209A= | ENSP00000430092.1:p.Gln403= | |
| ENST00000521168.5:n.249A= | ||
| NM_001291339.1:c.1209A= | NP_001278268.1:p.Gln403= | |
| NM_024790.6:c.2244A= | NP_079066.5:p.Gln748= | |
| XM_005251305.3:c.2487A= | XP_005251362.2:p.Gln829= | |
| XM_006716474.2:c.2334A= | XP_006716537.2:p.Gln778= | |
| XM_006716477.2:c.1956A= | XP_006716540.2:p.Gln652= | |
| XM_011517598.1:c.2529A= | XP_011515900.1:p.Gln843= | |
| XM_011517599.1:c.2505A= | XP_011515901.1:p.Gln835= | |
| XM_011517600.1:c.2463A= | XP_011515902.1:p.Gln821= | |
| XM_011517601.1:c.2424A= | XP_011515903.1:p.Gln808= | |
| XM_011517602.1:c.2382A= | XP_011515904.1:p.Gln794= | |
| XM_011517603.1:c.2283A= | XP_011515905.1:p.Gln761= | |
| XM_011517604.1:c.2283A= | XP_011515906.1:p.Gln761= | |
| XM_011517605.1:c.2283A= | XP_011515907.1:p.Gln761= | |
| XM_011517606.1:c.2259A= | XP_011515908.1:p.Gln753= | |
| XM_011517607.1:c.2259A= | XP_011515909.1:p.Gln753= | |
| XM_011517608.1:c.2178A= | XP_011515910.1:p.Gln726= | |
| XM_011517609.1:c.1404A= | XP_011515911.1:p.Gln468= | |
| XM_011517610.1:c.924A= | XP_011515912.1:p.Gln308= | |
| XM_011517611.1:c.564A= | XP_011515913.1:p.Gln188= | |
| NM_001363131.1:c.2178A= | NP_001350060.1:p.Gln726= | |
| NM_001363132.1:c.2064A= | NP_001350061.1:p.Gln688= | |
| NM_001363133.1:c.1983A= | NP_001350062.1:p.Gln661= | |
| NM_001364869.1:c.2325A= | NP_001351798.1:p.Gln775= | |
| NM_001364870.1:c.2145A= | NP_001351799.1:p.Gln715= | |
| XM_005251305.4:c.2487A= | XP_005251362.2:p.Gln829= | |
| XM_006716474.3:c.2334A= | XP_006716537.2:p.Gln778= | |
| XM_006716477.3:c.1956A= | XP_006716540.2:p.Gln652= | |
| XM_011517598.2:c.2529A= | XP_011515900.1:p.Gln843= | |
| XM_011517599.2:c.2505A= | XP_011515901.1:p.Gln835= | |
| XM_011517600.2:c.2463A= | XP_011515902.1:p.Gln821= | |
| XM_011517601.2:c.2424A= | XP_011515903.1:p.Gln808= | |
| XM_011517602.2:c.2382A= | XP_011515904.1:p.Gln794= | |
| XM_011517603.2:c.2283A= | XP_011515905.1:p.Gln761= | |
| XM_011517607.2:c.2259A= | XP_011515909.1:p.Gln753= | |
| XM_011517609.2:c.1404A= | XP_011515911.1:p.Gln468= | |
| XM_011517611.3:c.564A= | XP_011515913.1:p.Gln188= | |
| XM_017013847.2:c.2388A= | XP_016869336.1:p.Gln796= | |
| XM_017013848.2:c.2364A= | XP_016869337.1:p.Gln788= | |
| XM_017013849.2:c.2325A= | XP_016869338.1:p.Gln775= | |
| XM_017013850.2:c.2283A= | XP_016869339.1:p.Gln761= | |
| XM_017013851.2:c.2136A= | XP_016869340.1:p.Gln712= | |
| XM_017013852.2:c.2130A= | XP_016869341.1:p.Gln710= | |
| XM_017013854.2:c.1932A= | XP_016869343.1:p.Gln644= | |
| XM_017013855.2:c.1698A= | XP_016869344.1:p.Gln566= | |
| XM_017013856.2:c.1605A= | XP_016869345.1:p.Gln535= | |
| XM_017013858.2:c.771A= | XP_016869347.1:p.Gln257= | |
| XM_024447278.1:c.2259A= | XP_024303046.1:p.Gln753= | |
| XM_024447279.1:c.2178A= | XP_024303047.1:p.Gln726= | |
| XM_024447281.1:c.1983A= | XP_024303049.1:p.Gln661= | |
| XM_024447282.1:c.1686A= | XP_024303050.1:p.Gln562= | |
| XM_024447283.1:c.1362A= | XP_024303051.1:p.Gln454= | |
| XM_024447284.1:c.924A= | XP_024303052.1:p.Gln308= | |
| NM_001363131.2:c.2178A= | NP_001350060.1:p.Gln726= | |
| NM_001363132.2:c.2064A= | NP_001350061.1:p.Gln688= | |
| NM_001363133.2:c.1983A= | NP_001350062.1:p.Gln661= | |
| NM_001291339.2:c.1209A= | NP_001278268.1:p.Gln403= | |
| NM_001382391.1:c.2259A= MANE Select | NP_001369320.1:p.Gln753= |