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_000010.11:g.60080160_60080161delinsCT , CM000672.2:g.60080160_60080161delinsCT | GRCh38 |
| NC_000010.10:g.61839918_61839919delinsCT , CM000672.1:g.61839918_61839919delinsCT | GRCh37 |
| NC_000010.9:g.61509924_61509925delinsCT | NCBI36 |
| NG_029917.1:g.658366_658367delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467420.7:c.4489+376_4489+377delinsAG | ENSP00000423968.2:n.4489+376_4489+377delinsAG | |
| ENST00000503366.6:c.4408+376_4408+377delinsAG | ENSP00000425236.1:n.4408+376_4408+377delinsAG | |
| ENST00000280772.7:c.4432+376_4432+377delinsAG MANE Select | ENSP00000280772.1:n.4432+376_4432+377delinsAG | |
| ENST00000280772.6:c.4432+376_4432+377delinsAG | ENSP00000280772.1:n.4432+376_4432+377delinsAG | |
| ENST00000355288.6:c.1807+376_1807+377delinsAG | ENSP00000347436.2:n.1807+376_1807+377delinsAG | |
| ENST00000373820.5:c.181+376_181+377delinsAG | ENSP00000362926.1:n.181+376_181+377delinsAG | |
| ENST00000373827.6:c.4387+376_4387+377delinsAG | ENSP00000362933.2:n.4387+376_4387+377delinsAG | |
| ENST00000503366.5:c.4408+376_4408+377delinsAG | ENSP00000425236.1:n.4408+376_4408+377delinsAG | |
| ENST00000511043.5:c.84+376_84+377delinsAG | ||
| ENST00000610321.4:c.1457+376_1457+377delinsAG | ||
| ENST00000616444.4:c.1223+412_1223+413delinsAG | ||
| ENST00000618374.4:c.1807+376_1807+377delinsAG | ENSP00000479018.1:n.1807+376_1807+377delinsAG | |
| NM_001149.3:c.1807+376_1807+377delinsAG | NP_001140.2:n.1807+376_1807+377delinsAG | |
| NM_001204403.1:c.4387+376_4387+377delinsAG | NP_001191332.1:n.4387+376_4387+377delinsAG | |
| NM_001204404.1:c.4408+376_4408+377delinsAG | NP_001191333.1:n.4408+376_4408+377delinsAG | |
| NM_020987.3:c.4432+376_4432+377delinsAG | NP_066267.2:n.4432+376_4432+377delinsAG | |
| XM_005269715.2:c.4459+376_4459+377delinsAG | XP_005269772.1:n.4459+376_4459+377delinsAG | |
| XM_005269716.2:c.4405+376_4405+377delinsAG | XP_005269773.1:n.4405+376_4405+377delinsAG | |
| XM_006717791.2:c.4498+376_4498+377delinsAG | XP_006717854.1:n.4498+376_4498+377delinsAG | |
| XM_006717793.2:c.4498+376_4498+377delinsAG | XP_006717856.1:n.4498+376_4498+377delinsAG | |
| XM_006717795.2:c.4498+376_4498+377delinsAG | XP_006717858.1:n.4498+376_4498+377delinsAG | |
| XM_006717796.2:c.4498+376_4498+377delinsAG | XP_006717859.1:n.4498+376_4498+377delinsAG | |
| XM_006717802.2:c.4498+376_4498+377delinsAG | XP_006717865.1:n.4498+376_4498+377delinsAG | |
| XM_011539700.1:c.4486+376_4486+377delinsAG | XP_011538002.1:n.4486+376_4486+377delinsAG | |
| XM_011539701.1:c.4480+376_4480+377delinsAG | XP_011538003.1:n.4480+376_4480+377delinsAG | |
| XM_011539702.1:c.4441+376_4441+377delinsAG | XP_011538004.1:n.4441+376_4441+377delinsAG | |
| XM_011539703.1:c.4420+376_4420+377delinsAG | XP_011538005.1:n.4420+376_4420+377delinsAG | |
| XM_011539704.1:c.4399+376_4399+377delinsAG | XP_011538006.1:n.4399+376_4399+377delinsAG | |
| XM_011539705.1:c.4399+376_4399+377delinsAG | XP_011538007.1:n.4399+376_4399+377delinsAG | |
| XM_011539706.1:c.4387+376_4387+377delinsAG | XP_011538008.1:n.4387+376_4387+377delinsAG | |
| XM_011539707.1:c.4498+376_4498+377delinsAG | XP_011538009.1:n.4498+376_4498+377delinsAG | |
| XM_011539708.1:c.4498+376_4498+377delinsAG | XP_011538010.1:n.4498+376_4498+377delinsAG | |
| XM_011539709.1:c.4498+376_4498+377delinsAG | XP_011538011.1:n.4498+376_4498+377delinsAG | |
| XM_011539710.1:c.4498+376_4498+377delinsAG | XP_011538012.1:n.4498+376_4498+377delinsAG | |
| XM_011539711.1:c.4471+376_4471+377delinsAG | XP_011538013.1:n.4471+376_4471+377delinsAG | |
| XM_011539712.1:c.4462+412_4462+413delinsAG | XP_011538014.1:n.4462+412_4462+413delinsAG | |
| XM_011539713.1:c.4435+412_4435+413delinsAG | XP_011538015.1:n.4435+412_4435+413delinsAG | |
| XM_011539714.1:c.1846+376_1846+377delinsAG | XP_011538016.1:n.1846+376_1846+377delinsAG | |
| XM_011539715.1:c.1834+376_1834+377delinsAG | XP_011538017.1:n.1834+376_1834+377delinsAG | |
| XM_011539716.1:c.4471+376_4471+377delinsAG | XP_011538018.1:n.4471+376_4471+377delinsAG | |
| XM_011539717.1:c.4459+376_4459+377delinsAG | XP_011538019.1:n.4459+376_4459+377delinsAG | |
| XM_011539718.1:c.4342+376_4342+377delinsAG | XP_011538020.1:n.4342+376_4342+377delinsAG | |
| NM_001320874.1:c.4405+376_4405+377delinsAG | NP_001307803.1:n.4405+376_4405+377delinsAG | |
| NM_020987.4:c.4432+376_4432+377delinsAG | NP_066267.2:n.4432+376_4432+377delinsAG | |
| XM_005269715.3:c.4459+376_4459+377delinsAG | XP_005269772.1:n.4459+376_4459+377delinsAG | |
| XM_006717796.3:c.4498+376_4498+377delinsAG | XP_006717859.1:n.4498+376_4498+377delinsAG | |
| XM_006717802.3:c.4498+376_4498+377delinsAG | XP_006717865.1:n.4498+376_4498+377delinsAG | |
| XM_011539708.2:c.4498+376_4498+377delinsAG | XP_011538010.1:n.4498+376_4498+377delinsAG | |
| XM_011539709.2:c.4498+376_4498+377delinsAG | XP_011538011.1:n.4498+376_4498+377delinsAG | |
| XM_017016110.1:c.4498+376_4498+377delinsAG | XP_016871599.1:n.4498+376_4498+377delinsAG | |
| XM_017016111.1:c.4486+376_4486+377delinsAG | XP_016871600.1:n.4486+376_4486+377delinsAG | |
| XM_017016112.1:c.4483+376_4483+377delinsAG | XP_016871601.1:n.4483+376_4483+377delinsAG | |
| XM_017016113.1:c.4471+376_4471+377delinsAG | XP_016871602.1:n.4471+376_4471+377delinsAG | |
| XM_017016114.1:c.4447+376_4447+377delinsAG | XP_016871603.1:n.4447+376_4447+377delinsAG | |
| XM_017016115.1:c.4420+376_4420+377delinsAG | XP_016871604.1:n.4420+376_4420+377delinsAG | |
| XM_017016116.1:c.4498+376_4498+377delinsAG | XP_016871605.1:n.4498+376_4498+377delinsAG | |
| XM_017016117.1:c.4498+376_4498+377delinsAG | XP_016871606.1:n.4498+376_4498+377delinsAG | |
| XM_017016118.1:c.4498+376_4498+377delinsAG | XP_016871607.1:n.4498+376_4498+377delinsAG | |
| XM_017016119.1:c.4498+376_4498+377delinsAG | XP_016871608.1:n.4498+376_4498+377delinsAG | |
| XM_017016120.1:c.4498+376_4498+377delinsAG | XP_016871609.1:n.4498+376_4498+377delinsAG | |
| XM_017016121.1:c.4471+376_4471+377delinsAG | XP_016871610.1:n.4471+376_4471+377delinsAG | |
| XM_017016122.1:c.4405+376_4405+377delinsAG | XP_016871611.1:n.4405+376_4405+377delinsAG | |
| XM_017016123.1:c.4498+376_4498+377delinsAG | XP_016871612.1:n.4498+376_4498+377delinsAG | |
| XM_017016124.1:c.4471+376_4471+377delinsAG | XP_016871613.1:n.4471+376_4471+377delinsAG | |
| XM_017016125.1:c.4471+376_4471+377delinsAG | XP_016871614.1:n.4471+376_4471+377delinsAG | |
| XM_017016126.1:c.4366+376_4366+377delinsAG | XP_016871615.1:n.4366+376_4366+377delinsAG | |
| XM_017016127.1:c.4339+376_4339+377delinsAG | XP_016871616.1:n.4339+376_4339+377delinsAG | |
| XM_017016128.1:c.4471+376_4471+377delinsAG | XP_016871617.1:n.4471+376_4471+377delinsAG | |
| XM_017016129.1:c.4471+376_4471+377delinsAG | XP_016871618.1:n.4471+376_4471+377delinsAG | |
| XM_017016130.1:c.4405+376_4405+377delinsAG | XP_016871619.1:n.4405+376_4405+377delinsAG | |
| XM_017016131.1:c.4390+376_4390+377delinsAG | XP_016871620.1:n.4390+376_4390+377delinsAG | |
| XM_017016132.1:c.4369+412_4369+413delinsAG | XP_016871621.1:n.4369+412_4369+413delinsAG | |
| XM_017016134.1:c.4339+376_4339+377delinsAG | XP_016871623.1:n.4339+376_4339+377delinsAG | |
| XM_017016136.1:c.4498+376_4498+377delinsAG | XP_016871625.1:n.4498+376_4498+377delinsAG | |
| XM_017016137.1:c.4471+376_4471+377delinsAG | XP_016871626.1:n.4471+376_4471+377delinsAG | |
| XM_017016138.1:c.4471+376_4471+377delinsAG | XP_016871627.1:n.4471+376_4471+377delinsAG | |
| XM_017016141.1:c.4366+376_4366+377delinsAG | XP_016871630.1:n.4366+376_4366+377delinsAG | |
| XM_024447953.1:c.4471+376_4471+377delinsAG | XP_024303721.1:n.4471+376_4471+377delinsAG | |
| XM_024447954.1:c.4444+376_4444+377delinsAG | XP_024303722.1:n.4444+376_4444+377delinsAG | |
| XM_024447955.1:c.4435+376_4435+377delinsAG | XP_024303723.1:n.4435+376_4435+377delinsAG | |
| XM_024447956.1:c.4432+376_4432+377delinsAG | XP_024303724.1:n.4432+376_4432+377delinsAG | |
| XM_024447957.1:c.4399+376_4399+377delinsAG | XP_024303725.1:n.4399+376_4399+377delinsAG | |
| XM_024447958.1:c.4381+376_4381+377delinsAG | XP_024303726.1:n.4381+376_4381+377delinsAG | |
| XM_024447959.1:c.4381+376_4381+377delinsAG | XP_024303727.1:n.4381+376_4381+377delinsAG | |
| XM_024447960.1:c.4369+376_4369+377delinsAG | XP_024303728.1:n.4369+376_4369+377delinsAG | |
| XM_024447961.1:c.4366+376_4366+377delinsAG | XP_024303729.1:n.4366+376_4366+377delinsAG | |
| XM_024447962.1:c.4471+376_4471+377delinsAG | XP_024303730.1:n.4471+376_4471+377delinsAG | |
| XM_024447963.1:c.4498+376_4498+377delinsAG | XP_024303731.1:n.4498+376_4498+377delinsAG | |
| XM_024447964.1:c.4435+412_4435+413delinsAG | XP_024303732.1:n.4435+412_4435+413delinsAG | |
| XM_024447965.1:c.4462+412_4462+413delinsAG | XP_024303733.1:n.4462+412_4462+413delinsAG | |
| NM_020987.5:c.4432+376_4432+377delinsAG MANE Select | NP_066267.2:n.4432+376_4432+377delinsAG | |
| NM_001204403.2:c.4387+376_4387+377delinsAG | NP_001191332.1:n.4387+376_4387+377delinsAG | |
| NM_001204404.2:c.4408+376_4408+377delinsAG | NP_001191333.1:n.4408+376_4408+377delinsAG | |
| NM_001320874.2:c.4405+376_4405+377delinsAG | NP_001307803.1:n.4405+376_4405+377delinsAG | |
| NM_001149.4:c.1807+376_1807+377delinsAG | NP_001140.2:n.1807+376_1807+377delinsAG |