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.17393468_17393470del , CM000673.2:g.17393468_17393470del | GRCh38 |
| NC_000011.9:g.17415015_17415017del , CM000673.1:g.17415015_17415017del | GRCh37 |
| NC_000011.8:g.17371591_17371593del | NCBI36 |
| NG_008867.1:g.88435_88437del | |
| NG_012446.1:g.192_194del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.4209+229_4209+231del | ||
| ENST00000526037.6:n.543+229_543+231del | ||
| ENST00000528374.2:c.1199+229_1199+231del | ||
| ENST00000529967.6:n.2947+229_2947+231del | ||
| ENST00000532220.2:n.3841+229_3841+231del | ||
| ENST00000642611.2:n.5941+229_5941+231del | ||
| ENST00000644057.2:n.1184+229_1184+231del | ||
| ENST00000645004.2:n.2107+229_2107+231del | ||
| ENST00000682051.1:n.4770+229_4770+231del | ||
| ENST00000682110.1:n.4823+229_4823+231del | ||
| ENST00000682140.1:c.*394+229_*394+231del | ENSP00000507829.1:n.*394+229_*394+231del | |
| ENST00000682185.1:n.5913+229_5913+231del | ||
| ENST00000682204.1:c.*2746+229_*2746+231del | ENSP00000507094.1:n.*2746+229_*2746+231del | |
| ENST00000682215.1:n.5190+229_5190+231del | ||
| ENST00000682288.1:c.*3039+229_*3039+231del | ENSP00000507506.1:n.*3039+229_*3039+231del | |
| ENST00000682442.1:n.5043+229_5043+231del | ||
| ENST00000682528.1:n.4900+229_4900+231del | ||
| ENST00000682673.1:n.4767+229_4767+231del | ||
| ENST00000682805.1:n.5228+229_5228+231del | ||
| ENST00000682965.1:c.*1030+229_*1030+231del | ENSP00000508229.1:n.*1030+229_*1030+231del | |
| ENST00000683093.1:n.5803+229_5803+231del | ||
| ENST00000683136.1:c.4491+229_4491+231del | ENSP00000507768.1:n.4491+229_4491+231del | |
| ENST00000683153.1:n.4865+229_4865+231del | ||
| ENST00000683365.1:n.4925+229_4925+231del | ||
| ENST00000683377.1:n.4719+229_4719+231del | ||
| ENST00000683456.1:c.*1745+229_*1745+231del | ENSP00000508318.1:n.*1745+229_*1745+231del | |
| ENST00000683522.1:n.4905+229_4905+231del | ||
| ENST00000683562.1:c.*2673+229_*2673+231del | ENSP00000508265.1:n.*2673+229_*2673+231del | |
| ENST00000683693.1:n.6284+229_6284+231del | ||
| ENST00000683725.1:c.*73+229_*73+231del | ENSP00000507496.1:n.*73+229_*73+231del | |
| ENST00000684010.1:n.4818+229_4818+231del | ||
| ENST00000684014.1:n.795+229_795+231del | ||
| ENST00000684157.1:n.5808+229_5808+231del | ||
| ENST00000684253.1:n.4726+229_4726+231del | ||
| ENST00000684288.1:c.*2780+229_*2780+231del | ENSP00000507143.1:n.*2780+229_*2780+231del | |
| ENST00000684313.1:n.4255+229_4255+231del | ||
| ENST00000684332.1:n.4896+229_4896+231del | ||
| ENST00000684371.1:n.4929+229_4929+231del | ||
| ENST00000684404.1:n.5851+229_5851+231del | ||
| ENST00000684442.1:n.5047+229_5047+231del | ||
| ENST00000684555.1:c.*2820+229_*2820+231del | ENSP00000507705.1:n.*2820+229_*2820+231del | |
| ENST00000684571.1:c.4449+229_4449+231del | ENSP00000506935.1:n.4449+229_4449+231del | |
| ENST00000684593.1:c.*4313+229_*4313+231del | ENSP00000507005.1:n.*4313+229_*4313+231del | |
| ENST00000684711.1:c.*3004+229_*3004+231del | ENSP00000506841.1:n.*3004+229_*3004+231del | |
| ENST00000302539.9:c.4611+229_4611+231del | ENSP00000303960.4:n.4611+229_4611+231del | |
| ENST00000389817.8:c.4608+229_4608+231del MANE Select | ENSP00000374467.4:n.4608+229_4608+231del | |
| ENST00000642271.1:c.4605+229_4605+231del | ENSP00000493749.1:n.4605+229_4605+231del | |
| ENST00000642579.1:c.2662+229_2662+231del | ||
| ENST00000642611.1:n.5826+229_5826+231del | ||
| ENST00000642902.1:c.4390+229_4390+231del | ||
| ENST00000643260.1:c.4608+229_4608+231del | ENSP00000494450.1:n.4608+229_4608+231del | |
| ENST00000643562.1:c.*2730+229_*2730+231del | ENSP00000496124.1:n.*2730+229_*2730+231del | |
| ENST00000643925.1:c.3186-340_3186-338del | ||
| ENST00000644057.1:n.767+229_767+231del | ||
| ENST00000644484.1:c.*3994+229_*3994+231del | ENSP00000493558.1:n.*3994+229_*3994+231del | |
| ENST00000644675.1:c.*2780+229_*2780+231del | ENSP00000494567.1:n.*2780+229_*2780+231del | |
| ENST00000644757.1:c.*3203-488_*3203-486del | ENSP00000495085.1:n.*3203-488_*3203-486del | |
| ENST00000644772.1:c.4674+229_4674+231del | ENSP00000494321.1:n.4674+229_4674+231del | |
| ENST00000645004.1:n.2301+229_2301+231del | ||
| ENST00000645076.1:c.3703+229_3703+231del | ||
| ENST00000645417.1:c.1796+229_1796+231del | ||
| ENST00000645744.1:c.*4293+229_*4293+231del | ENSP00000494564.1:n.*4293+229_*4293+231del | |
| ENST00000645760.1:c.5029+229_5029+231del | ||
| ENST00000645884.1:c.*1891+229_*1891+231del | ENSP00000495516.1:n.*1891+229_*1891+231del | |
| ENST00000646003.1:c.*2630+229_*2630+231del | ENSP00000495259.1:n.*2630+229_*2630+231del | |
| ENST00000646207.1:c.*3445+229_*3445+231del | ENSP00000495025.1:n.*3445+229_*3445+231del | |
| ENST00000646276.1:c.*4012+229_*4012+231del | ENSP00000496070.1:n.*4012+229_*4012+231del | |
| ENST00000646592.1:c.3914+229_3914+231del | ||
| ENST00000646902.1:c.4575+229_4575+231del | ENSP00000494101.1:n.4575+229_4575+231del | |
| ENST00000646993.1:c.*3046+229_*3046+231del | ENSP00000493720.1:n.*3046+229_*3046+231del | |
| ENST00000647015.1:c.4359+229_4359+231del | ENSP00000495389.1:n.4359+229_4359+231del | |
| ENST00000647086.1:c.*4194+229_*4194+231del | ENSP00000493677.1:n.*4194+229_*4194+231del | |
| ENST00000647158.1:c.*2895+229_*2895+231del | ENSP00000495744.1:n.*2895+229_*2895+231del | |
| ENST00000302539.8:c.4611+229_4611+231del | ENSP00000303960.4:n.4611+229_4611+231del | |
| ENST00000389817.7:c.4608+229_4608+231del | ENSP00000374467.3:n.4608+229_4608+231del | |
| ENST00000525022.1:n.503+229_503+231del | ||
| ENST00000526037.5:n.368+229_368+231del | ||
| ENST00000526168.5:c.396+229_396+231del | ||
| ENST00000531642.5:c.639+229_639+231del | ||
| NM_000352.4:c.4608+229_4608+231del | NP_000343.2:n.4608+229_4608+231del | |
| NM_001287174.1:c.4611+229_4611+231del | NP_001274103.1:n.4611+229_4611+231del | |
| XM_011520331.1:c.4608+229_4608+231del | XP_011518633.1:n.4608+229_4608+231del | |
| XM_011520333.1:c.3108+229_3108+231del | XP_011518635.1:n.3108+229_3108+231del | |
| XR_930890.1:n.4570+229_4570+231del | ||
| NM_001351295.1:c.4674+229_4674+231del | NP_001338224.1:n.4674+229_4674+231del | |
| NM_001351296.1:c.4608+229_4608+231del | NP_001338225.1:n.4608+229_4608+231del | |
| NM_001351297.1:c.4605+229_4605+231del | NP_001338226.1:n.4605+229_4605+231del | |
| NR_147094.1:n.4903+229_4903+231del | ||
| XM_017018197.2:c.4677+229_4677+231del | XP_016873686.1:n.4677+229_4677+231del | |
| XM_017018199.1:c.4674+229_4674+231del | XP_016873688.1:n.4674+229_4674+231del | |
| XM_017018202.1:c.3174+229_3174+231del | XP_016873691.1:n.3174+229_3174+231del | |
| XM_017018204.1:c.2565+229_2565+231del | XP_016873693.1:n.2565+229_2565+231del | |
| XM_024448668.1:c.2976+229_2976+231del | XP_024304436.1:n.2976+229_2976+231del | |
| XR_001747945.2:n.4645+229_4645+231del | ||
| XR_001747946.2:n.4576+229_4576+231del | ||
| XR_002957189.1:n.6359+229_6359+231del | ||
| NM_000352.6:c.4608+229_4608+231del MANE Select | NP_000343.2:n.4608+229_4608+231del | |
| NM_001287174.2:c.4611+229_4611+231del | NP_001274103.1:n.4611+229_4611+231del | |
| NM_001351295.2:c.4674+229_4674+231del | NP_001338224.1:n.4674+229_4674+231del | |
| NM_001351296.2:c.4608+229_4608+231del | NP_001338225.1:n.4608+229_4608+231del | |
| NM_001351297.2:c.4605+229_4605+231del | NP_001338226.1:n.4605+229_4605+231del | |
| NR_147094.2:n.4903+229_4903+231del | ||
| NM_001287174.3:c.4611+229_4611+231del | NP_001274103.1:n.4611+229_4611+231del |