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.67158381A>G , CM000670.2:g.67158381A>G | GRCh38 |
| NC_000008.10:g.68070616A>G , CM000670.1:g.68070616A>G | GRCh37 |
| NC_000008.9:g.68233170A>G | NCBI36 |
| NG_034100.1:g.99014A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262210.11:c.2308-66A>G | ENSP00000262210.6:n.2308-66A>G | |
| ENST00000521324.3:c.114-66A>G | ||
| ENST00000674993.1:c.2332-66A>G | ENSP00000502454.1:n.2332-66A>G | |
| ENST00000675306.2:c.1966-66A>G | ENSP00000502421.1:n.1966-66A>G | |
| ENST00000675869.1:c.2047-66A>G | ENSP00000502747.1:n.2047-66A>G | |
| ENST00000675955.1:c.2161-66A>G | ENSP00000501676.1:n.2161-66A>G | |
| ENST00000675990.1:n.3505A>G | ||
| ENST00000676113.1:c.2200-66A>G | ENSP00000501645.1:n.2200-66A>G | |
| ENST00000676317.1:c.2227-66A>G | ENSP00000502047.1:n.2227-66A>G | |
| ENST00000676471.1:c.1975-66A>G | ENSP00000503711.1:n.1975-66A>G | |
| ENST00000676534.1:n.5168-66A>G | ||
| ENST00000676567.1:c.*866-66A>G | ENSP00000503427.1:n.*866-66A>G | |
| ENST00000676573.1:c.1543-66A>G | ENSP00000504532.1:n.1543-66A>G | |
| ENST00000676605.1:c.2350-66A>G | ENSP00000503605.1:n.2350-66A>G | |
| ENST00000676695.1:c.2168-66A>G | ENSP00000503292.1:n.2168-66A>G | |
| ENST00000676697.1:n.3103-66A>G | ||
| ENST00000676804.1:c.545-66A>G | ||
| ENST00000676847.1:c.2221-66A>G | ENSP00000503336.1:n.2221-66A>G | |
| ENST00000676858.1:c.*203-66A>G | ENSP00000502925.1:n.*203-66A>G | |
| ENST00000676882.1:c.2128-66A>G | ENSP00000504342.1:n.2128-66A>G | |
| ENST00000676968.1:c.114-66A>G | ||
| ENST00000677009.1:c.2227-66A>G | ENSP00000503297.1:n.2227-66A>G | |
| ENST00000677052.1:n.1740-66A>G | ||
| ENST00000677131.1:c.114-66A>G | ||
| ENST00000677256.1:c.*1961-66A>G | ENSP00000504102.1:n.*1961-66A>G | |
| ENST00000677430.1:c.2161-66A>G | ENSP00000504177.1:n.2161-66A>G | |
| ENST00000677455.1:n.2115-66A>G | ||
| ENST00000677473.1:c.*258-66A>G | ENSP00000503534.1:n.*258-66A>G | |
| ENST00000677592.1:c.2209-66A>G | ENSP00000504516.1:n.2209-66A>G | |
| ENST00000677619.1:c.1588-66A>G | ENSP00000504522.1:n.1588-66A>G | |
| ENST00000677697.1:n.144A>G | ||
| ENST00000677845.1:c.*613-66A>G | ENSP00000503524.1:n.*613-66A>G | |
| ENST00000677855.1:c.1550-66A>G | ENSP00000504757.1:n.1550-66A>G | |
| ENST00000677964.1:c.114-66A>G | ||
| ENST00000678017.1:c.1093-66A>G | ENSP00000504394.1:n.1093-66A>G | |
| ENST00000678138.1:n.2405-66A>G | ||
| ENST00000678156.1:n.1882-66A>G | ||
| ENST00000678318.1:c.1777-66A>G | ENSP00000503690.1:n.1777-66A>G | |
| ENST00000678362.1:c.*1019-66A>G | ENSP00000504317.1:n.*1019-66A>G | |
| ENST00000678542.1:c.2350-66A>G | ENSP00000503878.1:n.2350-66A>G | |
| ENST00000678616.1:c.2242-66A>G MANE Select | ENSP00000504733.1:n.2242-66A>G | |
| ENST00000678635.1:n.737-66A>G | ||
| ENST00000678645.1:c.2119-66A>G | ENSP00000504031.1:n.2119-66A>G | |
| ENST00000678723.1:c.114-66A>G | ||
| ENST00000678747.1:c.1669-66A>G | ENSP00000503390.1:n.1669-66A>G | |
| ENST00000678807.1:n.1277-66A>G | ||
| ENST00000678895.1:c.114-66A>G | ||
| ENST00000679042.1:n.3067-66A>G | ||
| ENST00000679112.1:c.*2141-66A>G | ENSP00000503739.1:n.*2141-66A>G | |
| ENST00000679226.1:c.1966-66A>G | ENSP00000503601.1:n.1966-66A>G | |
| ENST00000679274.1:n.1166-66A>G | ||
| ENST00000679295.1:n.1213-66A>G | ||
| ENST00000262210.9:c.2227-66A>G | ENSP00000262210.5:n.2227-66A>G | |
| ENST00000519163.6:c.*2493-66A>G | ENSP00000428694.1:n.*2493-66A>G | |
| ENST00000519668.1:c.1192-66A>G | ENSP00000430092.1:n.1192-66A>G | |
| ENST00000521168.5:n.232-66A>G | ||
| NM_001291339.1:c.1192-66A>G | NP_001278268.1:n.1192-66A>G | |
| NM_024790.6:c.2227-66A>G | NP_079066.5:n.2227-66A>G | |
| XM_005251305.3:c.2470-66A>G | XP_005251362.2:n.2470-66A>G | |
| XM_006716474.2:c.2317-66A>G | XP_006716537.2:n.2317-66A>G | |
| XM_006716477.2:c.1939-66A>G | XP_006716540.2:n.1939-66A>G | |
| XM_011517598.1:c.2512-66A>G | XP_011515900.1:n.2512-66A>G | |
| XM_011517599.1:c.2488-66A>G | XP_011515901.1:n.2488-66A>G | |
| XM_011517600.1:c.2446-66A>G | XP_011515902.1:n.2446-66A>G | |
| XM_011517601.1:c.2407-66A>G | XP_011515903.1:n.2407-66A>G | |
| XM_011517602.1:c.2365-66A>G | XP_011515904.1:n.2365-66A>G | |
| XM_011517603.1:c.2266-66A>G | XP_011515905.1:n.2266-66A>G | |
| XM_011517604.1:c.2266-66A>G | XP_011515906.1:n.2266-66A>G | |
| XM_011517605.1:c.2266-66A>G | XP_011515907.1:n.2266-66A>G | |
| XM_011517606.1:c.2242-66A>G | XP_011515908.1:n.2242-66A>G | |
| XM_011517607.1:c.2242-66A>G | XP_011515909.1:n.2242-66A>G | |
| XM_011517608.1:c.2161-66A>G | XP_011515910.1:n.2161-66A>G | |
| XM_011517609.1:c.1387-66A>G | XP_011515911.1:n.1387-66A>G | |
| XM_011517610.1:c.907-66A>G | XP_011515912.1:n.907-66A>G | |
| XM_011517611.1:c.547-66A>G | XP_011515913.1:n.547-66A>G | |
| NM_001363131.1:c.2161-66A>G | NP_001350060.1:n.2161-66A>G | |
| NM_001363132.1:c.2047-66A>G | NP_001350061.1:n.2047-66A>G | |
| NM_001363133.1:c.1966-66A>G | NP_001350062.1:n.1966-66A>G | |
| NM_001364869.1:c.2308-66A>G | NP_001351798.1:n.2308-66A>G | |
| NM_001364870.1:c.2128-66A>G | NP_001351799.1:n.2128-66A>G | |
| XM_005251305.4:c.2470-66A>G | XP_005251362.2:n.2470-66A>G | |
| XM_006716474.3:c.2317-66A>G | XP_006716537.2:n.2317-66A>G | |
| XM_006716477.3:c.1939-66A>G | XP_006716540.2:n.1939-66A>G | |
| XM_011517598.2:c.2512-66A>G | XP_011515900.1:n.2512-66A>G | |
| XM_011517599.2:c.2488-66A>G | XP_011515901.1:n.2488-66A>G | |
| XM_011517600.2:c.2446-66A>G | XP_011515902.1:n.2446-66A>G | |
| XM_011517601.2:c.2407-66A>G | XP_011515903.1:n.2407-66A>G | |
| XM_011517602.2:c.2365-66A>G | XP_011515904.1:n.2365-66A>G | |
| XM_011517603.2:c.2266-66A>G | XP_011515905.1:n.2266-66A>G | |
| XM_011517607.2:c.2242-66A>G | XP_011515909.1:n.2242-66A>G | |
| XM_011517609.2:c.1387-66A>G | XP_011515911.1:n.1387-66A>G | |
| XM_011517611.3:c.547-66A>G | XP_011515913.1:n.547-66A>G | |
| XM_017013847.2:c.2371-66A>G | XP_016869336.1:n.2371-66A>G | |
| XM_017013848.2:c.2347-66A>G | XP_016869337.1:n.2347-66A>G | |
| XM_017013849.2:c.2308-66A>G | XP_016869338.1:n.2308-66A>G | |
| XM_017013850.2:c.2266-66A>G | XP_016869339.1:n.2266-66A>G | |
| XM_017013851.2:c.2119-66A>G | XP_016869340.1:n.2119-66A>G | |
| XM_017013852.2:c.2113-66A>G | XP_016869341.1:n.2113-66A>G | |
| XM_017013854.2:c.1915-66A>G | XP_016869343.1:n.1915-66A>G | |
| XM_017013855.2:c.1681-66A>G | XP_016869344.1:n.1681-66A>G | |
| XM_017013856.2:c.1588-66A>G | XP_016869345.1:n.1588-66A>G | |
| XM_017013858.2:c.754-66A>G | XP_016869347.1:n.754-66A>G | |
| XM_024447278.1:c.2242-66A>G | XP_024303046.1:n.2242-66A>G | |
| XM_024447279.1:c.2161-66A>G | XP_024303047.1:n.2161-66A>G | |
| XM_024447281.1:c.1966-66A>G | XP_024303049.1:n.1966-66A>G | |
| XM_024447282.1:c.1669-66A>G | XP_024303050.1:n.1669-66A>G | |
| XM_024447283.1:c.1345-66A>G | XP_024303051.1:n.1345-66A>G | |
| XM_024447284.1:c.907-66A>G | XP_024303052.1:n.907-66A>G | |
| NM_001363131.2:c.2161-66A>G | NP_001350060.1:n.2161-66A>G | |
| NM_001363132.2:c.2047-66A>G | NP_001350061.1:n.2047-66A>G | |
| NM_001363133.2:c.1966-66A>G | NP_001350062.1:n.1966-66A>G | |
| NM_001291339.2:c.1192-66A>G | NP_001278268.1:n.1192-66A>G | |
| NM_001382391.1:c.2242-66A>G MANE Select | NP_001369320.1:n.2242-66A>G |