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_000011.10:g.17412621_17412622delinsTG , CM000673.2:g.17412621_17412622delinsTG | GRCh38 |
| NC_000011.9:g.17434168_17434169delinsTG , CM000673.1:g.17434168_17434169delinsTG | GRCh37 |
| NC_000011.8:g.17390744_17390745delinsTG | NCBI36 |
| NG_008867.1:g.69281_69282delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2225+44_2225+45delinsCA | ||
| ENST00000529967.6:n.815+44_815+45delinsCA | ||
| ENST00000642611.2:n.2625+44_2625+45delinsCA | ||
| ENST00000682051.1:n.2572+44_2572+45delinsCA | ||
| ENST00000682110.1:n.2625+44_2625+45delinsCA | ||
| ENST00000682140.1:c.2553+44_2553+45delinsCA | ENSP00000507829.1:n.2553+44_2553+45delinsCA | |
| ENST00000682185.1:n.3861+44_3861+45delinsCA | ||
| ENST00000682204.1:c.*694+44_*694+45delinsCA | ENSP00000507094.1:n.*694+44_*694+45delinsCA | |
| ENST00000682215.1:n.2622+44_2622+45delinsCA | ||
| ENST00000682288.1:c.*987+44_*987+45delinsCA | ENSP00000507506.1:n.*987+44_*987+45delinsCA | |
| ENST00000682442.1:n.2746+44_2746+45delinsCA | ||
| ENST00000682528.1:n.2622+44_2622+45delinsCA | ||
| ENST00000682673.1:n.2569+44_2569+45delinsCA | ||
| ENST00000682805.1:n.2622+44_2622+45delinsCA | ||
| ENST00000682965.1:c.2553+44_2553+45delinsCA | ENSP00000508229.1:n.2553+44_2553+45delinsCA | |
| ENST00000683093.1:n.2724+44_2724+45delinsCA | ||
| ENST00000683136.1:c.2553+44_2553+45delinsCA | ENSP00000507768.1:n.2553+44_2553+45delinsCA | |
| ENST00000683153.1:n.2781+44_2781+45delinsCA | ||
| ENST00000683365.1:n.2727+44_2727+45delinsCA | ||
| ENST00000683377.1:n.2625+44_2625+45delinsCA | ||
| ENST00000683456.1:c.2556+44_2556+45delinsCA | ENSP00000508318.1:n.2556+44_2556+45delinsCA | |
| ENST00000683522.1:n.2625+44_2625+45delinsCA | ||
| ENST00000683562.1:c.*725+44_*725+45delinsCA | ENSP00000508265.1:n.*725+44_*725+45delinsCA | |
| ENST00000683693.1:n.2622+44_2622+45delinsCA | ||
| ENST00000683725.1:c.2556+44_2556+45delinsCA | ENSP00000507496.1:n.2556+44_2556+45delinsCA | |
| ENST00000684010.1:n.2540+44_2540+45delinsCA | ||
| ENST00000684157.1:n.2625+44_2625+45delinsCA | ||
| ENST00000684253.1:n.2528+44_2528+45delinsCA | ||
| ENST00000684288.1:c.*728+44_*728+45delinsCA | ENSP00000507143.1:n.*728+44_*728+45delinsCA | |
| ENST00000684313.1:n.2057+44_2057+45delinsCA | ||
| ENST00000684332.1:n.2698+44_2698+45delinsCA | ||
| ENST00000684371.1:n.2731+44_2731+45delinsCA | ||
| ENST00000684404.1:n.2622+44_2622+45delinsCA | ||
| ENST00000684442.1:n.2625+44_2625+45delinsCA | ||
| ENST00000684555.1:c.*768+44_*768+45delinsCA | ENSP00000507705.1:n.*768+44_*768+45delinsCA | |
| ENST00000684571.1:c.2397+44_2397+45delinsCA | ENSP00000506935.1:n.2397+44_2397+45delinsCA | |
| ENST00000684593.1:c.*2261+44_*2261+45delinsCA | ENSP00000507005.1:n.*2261+44_*2261+45delinsCA | |
| ENST00000684711.1:c.*952+44_*952+45delinsCA | ENSP00000506841.1:n.*952+44_*952+45delinsCA | |
| ENST00000302539.9:c.2559+44_2559+45delinsCA | ENSP00000303960.4:n.2559+44_2559+45delinsCA | |
| ENST00000389817.8:c.2556+44_2556+45delinsCA MANE Select | ENSP00000374467.4:n.2556+44_2556+45delinsCA | |
| ENST00000642271.1:c.2553+44_2553+45delinsCA | ENSP00000493749.1:n.2553+44_2553+45delinsCA | |
| ENST00000642579.1:c.640+44_640+45delinsCA | ||
| ENST00000642611.1:n.2510+44_2510+45delinsCA | ||
| ENST00000642902.1:c.2391+44_2391+45delinsCA | ||
| ENST00000643260.1:c.2556+44_2556+45delinsCA | ENSP00000494450.1:n.2556+44_2556+45delinsCA | |
| ENST00000643562.1:c.*532+44_*532+45delinsCA | ENSP00000496124.1:n.*532+44_*532+45delinsCA | |
| ENST00000643925.1:c.600+44_600+45delinsCA | ||
| ENST00000644447.1:c.912+44_912+45delinsCA | ENSP00000496282.1:n.912+44_912+45delinsCA | |
| ENST00000644472.1:c.*917+44_*917+45delinsCA | ENSP00000495378.1:n.*917+44_*917+45delinsCA | |
| ENST00000644484.1:c.*765+44_*765+45delinsCA | ENSP00000493558.1:n.*765+44_*765+45delinsCA | |
| ENST00000644542.1:c.*2261+44_*2261+45delinsCA | ENSP00000495532.1:n.*2261+44_*2261+45delinsCA | |
| ENST00000644675.1:c.*728+44_*728+45delinsCA | ENSP00000494567.1:n.*728+44_*728+45delinsCA | |
| ENST00000644757.1:c.*861+44_*861+45delinsCA | ENSP00000495085.1:n.*861+44_*861+45delinsCA | |
| ENST00000644772.1:c.2622+44_2622+45delinsCA | ENSP00000494321.1:n.2622+44_2622+45delinsCA | |
| ENST00000645076.1:c.1808+44_1808+45delinsCA | ||
| ENST00000645744.1:c.*920+44_*920+45delinsCA | ENSP00000494564.1:n.*920+44_*920+45delinsCA | |
| ENST00000645760.1:c.2831+44_2831+45delinsCA | ||
| ENST00000645884.1:c.2556+44_2556+45delinsCA | ENSP00000495516.1:n.2556+44_2556+45delinsCA | |
| ENST00000646003.1:c.*612+44_*612+45delinsCA | ENSP00000495259.1:n.*612+44_*612+45delinsCA | |
| ENST00000646207.1:c.*920+44_*920+45delinsCA | ENSP00000495025.1:n.*920+44_*920+45delinsCA | |
| ENST00000646276.1:c.*829+44_*829+45delinsCA | ENSP00000496070.1:n.*829+44_*829+45delinsCA | |
| ENST00000646592.1:c.1782+44_1782+45delinsCA | ||
| ENST00000646902.1:c.2553+44_2553+45delinsCA | ENSP00000494101.1:n.2553+44_2553+45delinsCA | |
| ENST00000646993.1:c.*952+44_*952+45delinsCA | ENSP00000493720.1:n.*952+44_*952+45delinsCA | |
| ENST00000647013.1:c.2562+44_2562+45delinsCA | ENSP00000496741.1:n.2562+44_2562+45delinsCA | |
| ENST00000647015.1:c.2307+44_2307+45delinsCA | ENSP00000495389.1:n.2307+44_2307+45delinsCA | |
| ENST00000647086.1:c.*2286+44_*2286+45delinsCA | ENSP00000493677.1:n.*2286+44_*2286+45delinsCA | |
| ENST00000647158.1:c.*697+44_*697+45delinsCA | ENSP00000495744.1:n.*697+44_*697+45delinsCA | |
| ENST00000302539.8:c.2559+44_2559+45delinsCA | ENSP00000303960.4:n.2559+44_2559+45delinsCA | |
| ENST00000389817.7:c.2556+44_2556+45delinsCA | ENSP00000374467.3:n.2556+44_2556+45delinsCA | |
| ENST00000526921.5:n.240+44_240+45delinsCA | ||
| ENST00000527905.5:c.2526+44_2526+45delinsCA | ENSP00000431653.1:n.2526+44_2526+45delinsCA | |
| ENST00000529967.5:n.225+44_225+45delinsCA | ||
| ENST00000530147.5:n.139+44_139+45delinsCA | ||
| ENST00000531911.1:n.670+44_670+45delinsCA | ||
| NM_000352.4:c.2556+44_2556+45delinsCA | NP_000343.2:n.2556+44_2556+45delinsCA | |
| NM_001287174.1:c.2559+44_2559+45delinsCA | NP_001274103.1:n.2559+44_2559+45delinsCA | |
| XM_011520331.1:c.2556+44_2556+45delinsCA | XP_011518633.1:n.2556+44_2556+45delinsCA | |
| XM_011520332.1:c.2559+44_2559+45delinsCA | XP_011518634.1:n.2559+44_2559+45delinsCA | |
| XM_011520333.1:c.1056+44_1056+45delinsCA | XP_011518635.1:n.1056+44_1056+45delinsCA | |
| XM_011520334.1:c.2559+44_2559+45delinsCA | XP_011518636.1:n.2559+44_2559+45delinsCA | |
| XR_930890.1:n.2622+44_2622+45delinsCA | ||
| XR_930891.1:n.2622+44_2622+45delinsCA | ||
| XR_930892.1:n.2622+44_2622+45delinsCA | ||
| XR_930893.1:n.2619+44_2619+45delinsCA | ||
| NM_001351295.1:c.2622+44_2622+45delinsCA | NP_001338224.1:n.2622+44_2622+45delinsCA | |
| NM_001351296.1:c.2556+44_2556+45delinsCA | NP_001338225.1:n.2556+44_2556+45delinsCA | |
| NM_001351297.1:c.2553+44_2553+45delinsCA | NP_001338226.1:n.2553+44_2553+45delinsCA | |
| NR_147094.1:n.2625+44_2625+45delinsCA | ||
| XM_017018197.2:c.2625+44_2625+45delinsCA | XP_016873686.1:n.2625+44_2625+45delinsCA | |
| XM_017018199.1:c.2622+44_2622+45delinsCA | XP_016873688.1:n.2622+44_2622+45delinsCA | |
| XM_017018201.2:c.2625+44_2625+45delinsCA | XP_016873690.1:n.2625+44_2625+45delinsCA | |
| XM_017018202.1:c.1122+44_1122+45delinsCA | XP_016873691.1:n.1122+44_1122+45delinsCA | |
| XM_017018204.1:c.513+44_513+45delinsCA | XP_016873693.1:n.513+44_513+45delinsCA | |
| XM_024448668.1:c.924+44_924+45delinsCA | XP_024304436.1:n.924+44_924+45delinsCA | |
| XR_001747945.2:n.2697+44_2697+45delinsCA | ||
| XR_001747946.2:n.2628+44_2628+45delinsCA | ||
| XR_002957189.1:n.2697+44_2697+45delinsCA | ||
| NM_000352.6:c.2556+44_2556+45delinsCA MANE Select | NP_000343.2:n.2556+44_2556+45delinsCA | |
| NM_001287174.2:c.2559+44_2559+45delinsCA | NP_001274103.1:n.2559+44_2559+45delinsCA | |
| NM_001351295.2:c.2622+44_2622+45delinsCA | NP_001338224.1:n.2622+44_2622+45delinsCA | |
| NM_001351296.2:c.2556+44_2556+45delinsCA | NP_001338225.1:n.2556+44_2556+45delinsCA | |
| NM_001351297.2:c.2553+44_2553+45delinsCA | NP_001338226.1:n.2553+44_2553+45delinsCA | |
| NR_147094.2:n.2625+44_2625+45delinsCA | ||
| NM_001287174.3:c.2559+44_2559+45delinsCA | NP_001274103.1:n.2559+44_2559+45delinsCA |