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.17395625_17395642delinsAAGAGGACGGGGTCCTGC , CM000673.2:g.17395625_17395642delinsAAGAGGACGGGGTCCTGC | GRCh38 |
| NC_000011.9:g.17417172_17417189delinsAAGAGGACGGGGTCCTGC , CM000673.1:g.17417172_17417189delinsAAGAGGACGGGGTCCTGC | GRCh37 |
| NC_000011.8:g.17373748_17373765delinsAAGAGGACGGGGTCCTGC | NCBI36 |
| NG_008867.1:g.86261_86278delinsGCAGGACCCCGTCCTCTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3876_3893delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000528374.2:c.866_883delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000529967.6:n.2614_2631delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000532220.2:n.3508_3525delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000642611.2:n.5608_5625delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000644057.2:n.851_868delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000645004.2:n.1774_1791delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000682051.1:n.4437_4454delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000682110.1:n.4490_4507delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000682140.1:c.*61_*78delinsGCAGGACCCCGTCCTCTT | ENSP00000507829.1:n.*61_*78delinsGCAGGACCCCGTCCTCTT | |
| ENST00000682185.1:n.5580_5597delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000682204.1:c.*2413_*2430delinsGCAGGACCCCGTCCTCTT | ENSP00000507094.1:n.*2413_*2430delinsGCAGGACCCCGTCCTCTT | |
| ENST00000682215.1:n.4857_4874delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000682288.1:c.*2706_*2723delinsGCAGGACCCCGTCCTCTT | ENSP00000507506.1:n.*2706_*2723delinsGCAGGACCCCGTCCTCTT | |
| ENST00000682442.1:n.4710_4727delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000682528.1:n.4567_4584delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000682673.1:n.4434_4451delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000682805.1:n.4895_4912delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000682965.1:c.*697_*714delinsGCAGGACCCCGTCCTCTT | ENSP00000508229.1:n.*697_*714delinsGCAGGACCCCGTCCTCTT | |
| ENST00000683093.1:n.5574_5591delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000683136.1:c.4158_4175delinsGCAGGACCCCGTCCTCTT | ENSP00000507768.1:p.Leu1386= | |
| ENST00000683153.1:n.4532_4549delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000683365.1:n.4592_4609delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000683377.1:n.4490_4507delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000683456.1:c.*1412_*1429delinsGCAGGACCCCGTCCTCTT | ENSP00000508318.1:n.*1412_*1429delinsGCAGGACCCCGTCCTCTT | |
| ENST00000683522.1:n.4490_4507delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000683562.1:c.*2444_*2461delinsGCAGGACCCCGTCCTCTT | ENSP00000508265.1:n.*2444_*2461delinsGCAGGACCCCGTCCTCTT | |
| ENST00000683693.1:n.6055_6072delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000683725.1:c.4275_4292delinsGCAGGACCCCGTCCTCTT | ENSP00000507496.1:p.Leu1425= | |
| ENST00000684010.1:n.4485_4502delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000684157.1:n.5475_5492delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000684253.1:n.4393_4410delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000684288.1:c.*2447_*2464delinsGCAGGACCCCGTCCTCTT | ENSP00000507143.1:n.*2447_*2464delinsGCAGGACCCCGTCCTCTT | |
| ENST00000684313.1:n.3922_3939delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000684332.1:n.4563_4580delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000684371.1:n.4596_4613delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000684404.1:n.5518_5535delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000684442.1:n.4714_4731delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000684555.1:c.*2487_*2504delinsGCAGGACCCCGTCCTCTT | ENSP00000507705.1:n.*2487_*2504delinsGCAGGACCCCGTCCTCTT | |
| ENST00000684571.1:c.4116_4133delinsGCAGGACCCCGTCCTCTT | ENSP00000506935.1:p.Leu1372= | |
| ENST00000684593.1:c.*3980_*3997delinsGCAGGACCCCGTCCTCTT | ENSP00000507005.1:n.*3980_*3997delinsGCAGGACCCCGTCCTCTT | |
| ENST00000684711.1:c.*2671_*2688delinsGCAGGACCCCGTCCTCTT | ENSP00000506841.1:n.*2671_*2688delinsGCAGGACCCCGTCCTCTT | |
| ENST00000302539.9:c.4278_4295delinsGCAGGACCCCGTCCTCTT | ENSP00000303960.4:p.Leu1426= | |
| ENST00000389817.8:c.4275_4292delinsGCAGGACCCCGTCCTCTT MANE Select | ENSP00000374467.4:p.Leu1425= | |
| ENST00000642271.1:c.4272_4289delinsGCAGGACCCCGTCCTCTT | ENSP00000493749.1:p.Leu1424= | |
| ENST00000642579.1:c.2329_2346delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000642611.1:n.5493_5510delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000642902.1:c.4057_4074delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000643260.1:c.4275_4292delinsGCAGGACCCCGTCCTCTT | ENSP00000494450.1:p.Leu1425= | |
| ENST00000643562.1:c.*2397_*2414delinsGCAGGACCCCGTCCTCTT | ENSP00000496124.1:n.*2397_*2414delinsGCAGGACCCCGTCCTCTT | |
| ENST00000643925.1:c.2915_2932delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000644057.1:n.352_369delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000644484.1:c.*3661_*3678delinsGCAGGACCCCGTCCTCTT | ENSP00000493558.1:n.*3661_*3678delinsGCAGGACCCCGTCCTCTT | |
| ENST00000644675.1:c.*2447_*2464delinsGCAGGACCCCGTCCTCTT | ENSP00000494567.1:n.*2447_*2464delinsGCAGGACCCCGTCCTCTT | |
| ENST00000644757.1:c.*3202+622_*3202+639delinsGCAGGACCCCGTCCTCTT | ENSP00000495085.1:n.*3202+622_*3202+639delinsGCAGGACCCCGTCCTC... | |
| ENST00000644772.1:c.4341_4358delinsGCAGGACCCCGTCCTCTT | ENSP00000494321.1:p.Leu1447= | |
| ENST00000645004.1:n.1968_1985delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000645076.1:c.3474_3491delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000645417.1:c.1463_1480delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000645744.1:c.*3964-4_*3977delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000645760.1:c.4696_4713delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000645884.1:c.*1558_*1575delinsGCAGGACCCCGTCCTCTT | ENSP00000495516.1:n.*1558_*1575delinsGCAGGACCCCGTCCTCTT | |
| ENST00000646003.1:c.*2301-4_*2314delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000646207.1:c.*3112_*3129delinsGCAGGACCCCGTCCTCTT | ENSP00000495025.1:n.*3112_*3129delinsGCAGGACCCCGTCCTCTT | |
| ENST00000646276.1:c.*3679_*3696delinsGCAGGACCCCGTCCTCTT | ENSP00000496070.1:n.*3679_*3696delinsGCAGGACCCCGTCCTCTT | |
| ENST00000646592.1:c.3581_3598delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000646902.1:c.4242_4259delinsGCAGGACCCCGTCCTCTT | ENSP00000494101.1:p.Leu1414= | |
| ENST00000646993.1:c.*2817_*2834delinsGCAGGACCCCGTCCTCTT | ENSP00000493720.1:n.*2817_*2834delinsGCAGGACCCCGTCCTCTT | |
| ENST00000647013.1:c.4281_4298delinsGCAGGACCCCGTCCTCTT | ENSP00000496741.1:n.4281_4298delinsGCAGGACCCCGTCCTCTT | |
| ENST00000647015.1:c.4026_4043delinsGCAGGACCCCGTCCTCTT | ENSP00000495389.1:p.Leu1342= | |
| ENST00000647086.1:c.*3861_*3878delinsGCAGGACCCCGTCCTCTT | ENSP00000493677.1:n.*3861_*3878delinsGCAGGACCCCGTCCTCTT | |
| ENST00000647158.1:c.*2562_*2579delinsGCAGGACCCCGTCCTCTT | ENSP00000495744.1:n.*2562_*2579delinsGCAGGACCCCGTCCTCTT | |
| ENST00000302539.8:c.4278_4295delinsGCAGGACCCCGTCCTCTT | ENSP00000303960.4:p.Leu1426= | |
| ENST00000389817.7:c.4275_4292delinsGCAGGACCCCGTCCTCTT | ENSP00000374467.3:p.Leu1425= | |
| ENST00000525022.1:n.274_291delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000526037.5:n.139_156delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000526168.5:c.67-4_80delinsGCAGGACCCCGTCCTCTT | ||
| ENST00000531642.5:c.111_128delinsGCAGGACCCCGTCCTCTT | ||
| NM_000352.4:c.4275_4292delinsGCAGGACCCCGTCCTCTT | NP_000343.2:p.Leu1425= | |
| NM_001287174.1:c.4278_4295delinsGCAGGACCCCGTCCTCTT | NP_001274103.1:p.Leu1426= | |
| XM_011520331.1:c.4275_4292delinsGCAGGACCCCGTCCTCTT | XP_011518633.1:p.Leu1425= | |
| XM_011520332.1:c.4278_4295delinsGCAGGACCCCGTCCTCTT | XP_011518634.1:p.Leu1426= | |
| XM_011520333.1:c.2775_2792delinsGCAGGACCCCGTCCTCTT | XP_011518635.1:p.Leu925= | |
| XR_930890.1:n.4341_4358delinsGCAGGACCCCGTCCTCTT | ||
| NM_001351295.1:c.4341_4358delinsGCAGGACCCCGTCCTCTT | NP_001338224.1:p.Leu1447= | |
| NM_001351296.1:c.4275_4292delinsGCAGGACCCCGTCCTCTT | NP_001338225.1:p.Leu1425= | |
| NM_001351297.1:c.4272_4289delinsGCAGGACCCCGTCCTCTT | NP_001338226.1:p.Leu1424= | |
| NR_147094.1:n.4570_4587delinsGCAGGACCCCGTCCTCTT | ||
| XM_017018197.2:c.4344_4361delinsGCAGGACCCCGTCCTCTT | XP_016873686.1:p.Leu1448= | |
| XM_017018199.1:c.4341_4358delinsGCAGGACCCCGTCCTCTT | XP_016873688.1:p.Leu1447= | |
| XM_017018201.2:c.4344_4361delinsGCAGGACCCCGTCCTCTT | XP_016873690.1:p.Leu1448= | |
| XM_017018202.1:c.2841_2858delinsGCAGGACCCCGTCCTCTT | XP_016873691.1:p.Leu947= | |
| XM_017018204.1:c.2232_2249delinsGCAGGACCCCGTCCTCTT | XP_016873693.1:p.Leu744= | |
| XM_024448668.1:c.2643_2660delinsGCAGGACCCCGTCCTCTT | XP_024304436.1:p.Leu881= | |
| XR_001747945.2:n.4416_4433delinsGCAGGACCCCGTCCTCTT | ||
| XR_001747946.2:n.4347_4364delinsGCAGGACCCCGTCCTCTT | ||
| XR_002957189.1:n.6130_6147delinsGCAGGACCCCGTCCTCTT | ||
| NM_000352.6:c.4275_4292delinsGCAGGACCCCGTCCTCTT MANE Select | NP_000343.2:p.Leu1425= | |
| NM_001287174.2:c.4278_4295delinsGCAGGACCCCGTCCTCTT | NP_001274103.1:p.Leu1426= | |
| NM_001351295.2:c.4341_4358delinsGCAGGACCCCGTCCTCTT | NP_001338224.1:p.Leu1447= | |
| NM_001351296.2:c.4275_4292delinsGCAGGACCCCGTCCTCTT | NP_001338225.1:p.Leu1425= | |
| NM_001351297.2:c.4272_4289delinsGCAGGACCCCGTCCTCTT | NP_001338226.1:p.Leu1424= | |
| NR_147094.2:n.4570_4587delinsGCAGGACCCCGTCCTCTT | ||
| NM_001287174.3:c.4278_4295delinsGCAGGACCCCGTCCTCTT | NP_001274103.1:p.Leu1426= |