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_000007.14:g.5977626C= , CM000669.2:g.5977626C= | GRCh38 |
| NC_000007.13:g.6017257C= , CM000669.1:g.6017257C= | GRCh37 |
| NC_000007.12:g.5983783C= | NCBI36 |
| NG_008466.1:g.36481G= , LRG_161:g.36481G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1803G= | ENSP00000514615.2:n.*1803G= | |
| ENST00000699840.2:c.2404G= | ENSP00000514638.2:p.Val802= | |
| ENST00000699930.2:c.2299G= | ENSP00000514695.2:p.Val767= | |
| ENST00000406569.8:c.1767G= | ENSP00000514464.1:n.1767G= | |
| ENST00000644110.2:c.*2001G= | ENSP00000496392.2:n.*2001G= | |
| ENST00000699752.1:c.2251G= | ENSP00000514561.1:p.Val751= | |
| ENST00000699753.1:c.*1828G= | ENSP00000514562.1:n.*1828G= | |
| ENST00000699754.1:c.2209G= | ENSP00000514563.1:p.Val737= | |
| ENST00000699755.1:c.*1806G= | ENSP00000514564.1:n.*1806G= | |
| ENST00000699756.1:c.*1994G= | ENSP00000514565.1:n.*1994G= | |
| ENST00000699757.1:c.*1664G= | ENSP00000514566.1:n.*1664G= | |
| ENST00000699758.1:c.*1664G= | ENSP00000514567.1:n.*1664G= | |
| ENST00000699759.1:n.3261G= | ||
| ENST00000699760.1:c.2089G= | ENSP00000514568.1:p.Val697= | |
| ENST00000699761.1:c.2002G= | ENSP00000514569.1:p.Val668= | |
| ENST00000699762.1:c.1834G= | ENSP00000514570.1:p.Val612= | |
| ENST00000699763.1:c.*1497G= | ENSP00000514571.1:n.*1497G= | |
| ENST00000699764.1:c.*725G= | ENSP00000514572.1:n.*725G= | |
| ENST00000699765.1:c.*1402G= | ENSP00000514573.1:n.*1402G= | |
| ENST00000699766.1:c.2440G= | ENSP00000514574.1:p.Val814= | |
| ENST00000699767.1:c.*48G= | ENSP00000514575.1:n.*48G= | |
| ENST00000699768.1:c.2263G= | ENSP00000514576.1:p.Val755= | |
| ENST00000699811.1:c.2002G= | ENSP00000514614.1:p.Val668= | |
| ENST00000699813.1:n.2520G= | ||
| ENST00000699814.1:c.2030G= | ||
| ENST00000699815.1:c.*1938G= | ENSP00000514616.1:n.*1938G= | |
| ENST00000699816.1:c.*1297G= | ENSP00000514617.1:n.*1297G= | |
| ENST00000699817.1:c.*2001G= | ENSP00000514618.1:n.*2001G= | |
| ENST00000699818.1:c.2002G= | ENSP00000514619.1:p.Val668= | |
| ENST00000699819.1:c.*1564G= | ENSP00000514620.1:n.*1564G= | |
| ENST00000699820.1:c.*345G= | ENSP00000514621.1:n.*345G= | |
| ENST00000699821.1:c.2035G= | ENSP00000514622.1:p.Val679= | |
| ENST00000699822.1:c.*1859G= | ENSP00000514623.1:n.*1859G= | |
| ENST00000699823.1:c.2002G= | ENSP00000514624.1:p.Val668= | |
| ENST00000699824.1:c.*1910G= | ENSP00000514625.1:n.*1910G= | |
| ENST00000699825.1:c.1846G= | ENSP00000514626.1:p.Val616= | |
| ENST00000699826.1:c.*1806G= | ENSP00000514627.1:n.*1806G= | |
| ENST00000699827.1:c.2239G= | ENSP00000514628.1:p.Val747= | |
| ENST00000699828.1:c.*1497G= | ENSP00000514629.1:n.*1497G= | |
| ENST00000699833.1:n.4179G= | ||
| ENST00000699837.1:c.2002G= | ENSP00000514635.1:p.Val668= | |
| ENST00000699838.1:c.*2307G= | ENSP00000514636.1:n.*2307G= | |
| ENST00000699839.1:c.2593G= | ENSP00000514637.1:p.Val865= | |
| ENST00000699916.1:c.*1664G= | ENSP00000514684.1:n.*1664G= | |
| ENST00000699917.1:c.*1856G= | ENSP00000514685.1:n.*1856G= | |
| ENST00000699918.1:c.*1908G= | ENSP00000514686.1:n.*1908G= | |
| ENST00000699919.1:c.*1994G= | ENSP00000514687.1:n.*1994G= | |
| ENST00000699920.1:c.*2043G= | ENSP00000514688.1:n.*2043G= | |
| ENST00000699928.1:c.*345G= | ENSP00000514693.1:n.*345G= | |
| ENST00000699951.1:c.*1460G= | ENSP00000514706.1:n.*1460G= | |
| ENST00000699952.1:c.804-4084G= | ENSP00000514707.1:n.804-4084G= | |
| ENST00000265849.12:c.2407G= MANE Select | ENSP00000265849.7:p.Val803= | |
| ENST00000642292.1:c.2002G= | ENSP00000495524.1:p.Val668= | |
| ENST00000642456.1:c.2002G= | ENSP00000493814.1:p.Val668= | |
| ENST00000643595.1:c.*1806G= | ENSP00000494497.1:n.*1806G= | |
| ENST00000644110.1:c.2089G= | ENSP00000496392.1:p.Val697= | |
| ENST00000265849.11:c.2407G= | ENSP00000265849.7:p.Val803= | |
| ENST00000382321.5:c.1204G= | ENSP00000371758.4:p.Val402= | |
| ENST00000441476.6:c.2089G= | ENSP00000392843.2:p.Val697= | |
| NM_000535.5:c.2407G= , LRG_161t1:c.2407G= | NP_000526.1:p.Val803= | |
| NR_003085.2:n.2489G= | ||
| XM_006715742.2:c.2401G= | XP_006715805.1:p.Val801= | |
| XM_006715744.2:c.1474G= | XP_006715807.1:p.Val492= | |
| XM_011515427.1:c.2452G= | XP_011513729.1:p.Val818= | |
| XM_011515428.1:c.2296G= | XP_011513730.1:p.Val766= | |
| XM_011515429.1:c.2089G= | XP_011513731.1:p.Val697= | |
| XM_011515430.1:c.2089G= | XP_011513732.1:p.Val697= | |
| NM_000535.6:c.2407G= | NP_000526.2:p.Val803= | |
| NM_001322003.1:c.2002G= | NP_001308932.1:p.Val668= | |
| NM_001322004.1:c.2002G= | NP_001308933.1:p.Val668= | |
| NM_001322005.1:c.2002G= | NP_001308934.1:p.Val668= | |
| NM_001322006.1:c.2251G= | NP_001308935.1:p.Val751= | |
| NM_001322007.1:c.2089G= | NP_001308936.1:p.Val697= | |
| NM_001322008.1:c.2089G= | NP_001308937.1:p.Val697= | |
| NM_001322009.1:c.2035G= | NP_001308938.1:p.Val679= | |
| NM_001322010.1:c.1846G= | NP_001308939.1:p.Val616= | |
| NM_001322011.1:c.1474G= | NP_001308940.1:p.Val492= | |
| NM_001322012.1:c.1474G= | NP_001308941.1:p.Val492= | |
| NM_001322013.1:c.1834G= | NP_001308942.1:p.Val612= | |
| NM_001322014.1:c.2440G= | NP_001308943.1:p.Val814= | |
| NM_001322015.1:c.2098G= | NP_001308944.1:p.Val700= | |
| NR_136154.1:n.2451G= | ||
| XM_006715744.4:c.1474G= | XP_006715807.1:p.Val492= | |
| XM_017012342.2:c.1474G= | XP_016867831.1:p.Val492= | |
| XM_024446800.1:c.1846G= | XP_024302568.1:p.Val616= | |
| NM_000535.7:c.2407G= MANE Select | NP_000526.2:p.Val803= | |
| NM_001322003.2:c.2002G= | NP_001308932.1:p.Val668= | |
| NM_001322004.2:c.2002G= | NP_001308933.1:p.Val668= | |
| NM_001322005.2:c.2002G= | NP_001308934.1:p.Val668= | |
| NM_001322006.2:c.2251G= | NP_001308935.1:p.Val751= | |
| NM_001322008.2:c.2089G= | NP_001308937.1:p.Val697= | |
| NM_001322009.2:c.2035G= | NP_001308938.1:p.Val679= | |
| NM_001322010.2:c.1846G= | NP_001308939.1:p.Val616= | |
| NM_001322011.2:c.1474G= | NP_001308940.1:p.Val492= | |
| NM_001322012.2:c.1474G= | NP_001308941.1:p.Val492= | |
| NM_001322013.2:c.1834G= | NP_001308942.1:p.Val612= | |
| NM_001322014.2:c.2440G= | NP_001308943.1:p.Val814= | |
| NM_001322015.2:c.2098G= | NP_001308944.1:p.Val700= | |
| NM_001322007.2:c.2089G= | NP_001308936.1:p.Val697= |