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
Linked Data
gnomAD v4:
2-201284675-A-AGGGAGAGGGAGAGGGAGGCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201284692_201284693insGCGGGGAGAGGGAGAGGGAG , CM000664.2:g.201284692_201284693insGCGGGGAGAGGGAGAGGGAG | GRCh38 |
| NC_000002.11:g.202149415_202149416insGCGGGGAGAGGGAGAGGGAG , CM000664.1:g.202149415_202149416insGCGGGGAGAGGGAGAGGGAG | GRCh37 |
| NC_000002.10:g.201857660_201857661insGCGGGGAGAGGGAGAGGGAG | NCBI36 |
| NG_007497.1:g.56235_56236insGCGGGGAGAGGGAGAGGGAG , LRG_34:g.56235_56236insGCGGGGAGAGGGAGAGGGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413726.6:c.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | ENSP00000397528.2:n.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | |
| ENST00000440732.6:c.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | ENSP00000396869.2:n.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | |
| ENST00000444430.3:c.551-124_551-123insGCGGGGAGAGGGAGAGGGAG | ENSP00000394434.3:n.551-124_551-123insGCGGGGAGAGGGAGAGGGAG | |
| ENST00000450491.6:c.449-124_449-123insGCGGGGAGAGGGAGAGGGAG | ENSP00000391709.2:n.449-124_449-123insGCGGGGAGAGGGAGAGGGAG | |
| ENST00000696067.1:c.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | ENSP00000512369.1:n.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | |
| ENST00000696068.1:c.*30-124_*30-123insGCGGGGAGAGGGAGAGGGAG | ENSP00000512370.1:n.*30-124_*30-123insGCGGGGAGAGGGAGAGGGAG | |
| ENST00000696069.1:c.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | ENSP00000512371.1:n.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | |
| ENST00000696085.1:c.935-124_935-123insGCGGGGAGAGGGAGAGGGAG | ENSP00000512381.1:n.935-124_935-123insGCGGGGAGAGGGAGAGGGAG | |
| ENST00000696087.1:c.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | ENSP00000512382.1:n.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | |
| ENST00000673742.1:c.803-124_803-123insGCGGGGAGAGGGAGAGGGAG MANE Select | ENSP00000501268.1:n.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | |
| ENST00000264274.13:c.551-124_551-123insGCGGGGAGAGGGAGAGGGAG | ENSP00000264274.9:n.551-124_551-123insGCGGGGAGAGGGAGAGGGAG | |
| ENST00000264275.9:c.854-124_854-123insGCGGGGAGAGGGAGAGGGAG | ENSP00000264275.5:n.854-124_854-123insGCGGGGAGAGGGAGAGGGAG | |
| ENST00000323492.11:c.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | ENSP00000325722.7:n.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | |
| ENST00000339403.6:n.1024-124_1024-123insGCGGGGAGAGGGAGAGGGAG | ||
| ENST00000358485.8:c.980-124_980-123insGCGGGGAGAGGGAGAGGGAG | ENSP00000351273.4:n.980-124_980-123insGCGGGGAGAGGGAGAGGGAG | |
| ENST00000392263.6:c.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | ENSP00000376091.2:n.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | |
| ENST00000432109.6:c.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | ENSP00000412523.2:n.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | |
| ENST00000444430.2:c.140-124_140-123insGCGGGGAGAGGGAGAGGGAG | ENSP00000394434.2:n.140-124_140-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001080124.1:c.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | NP_001073593.1:n.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001080125.1:c.980-124_980-123insGCGGGGAGAGGGAGAGGGAG | NP_001073594.1:n.980-124_980-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001228.4:c.854-124_854-123insGCGGGGAGAGGGAGAGGGAG , LRG_34t1:c.854-124_854-123insGCGGGGAGAGGGAGAGGGAG | NP_001219.2:n.854-124_854-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_033355.3:c.803-124_803-123insGCGGGGAGAGGGAGAGGGAG , LRG_34t2:c.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | NP_203519.1:n.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_033356.3:c.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | NP_203520.1:n.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | |
| NR_111983.1:n.1317-124_1317-123insGCGGGGAGAGGGAGAGGGAG | ||
| XM_005246885.1:c.935-124_935-123insGCGGGGAGAGGGAGAGGGAG | XP_005246942.1:n.935-124_935-123insGCGGGGAGAGGGAGAGGGAG | |
| XM_005246886.1:c.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | XP_005246943.1:n.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | |
| XM_005246887.1:c.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | XP_005246944.1:n.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | |
| XM_005246888.1:c.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | XP_005246945.1:n.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | |
| XM_005246889.1:c.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | XP_005246946.1:n.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | |
| XM_005246890.2:c.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | XP_005246947.1:n.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | |
| XM_005246891.3:c.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | XP_005246948.1:n.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | |
| XM_005246892.1:c.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | XP_005246949.1:n.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | |
| XM_005246893.2:c.*30-124_*30-123insGCGGGGAGAGGGAGAGGGAG | XP_005246950.1:n.*30-124_*30-123insGCGGGGAGAGGGAGAGGGAG | |
| XM_005246894.2:c.206-124_206-123insGCGGGGAGAGGGAGAGGGAG | XP_005246951.1:n.206-124_206-123insGCGGGGAGAGGGAGAGGGAG | |
| XM_005246895.2:c.*30-124_*30-123insGCGGGGAGAGGGAGAGGGAG | XP_005246952.1:n.*30-124_*30-123insGCGGGGAGAGGGAGAGGGAG | |
| XM_006712789.1:c.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | XP_006712852.1:n.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | |
| XM_006712790.2:c.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | XP_006712853.1:n.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | |
| XM_006712791.1:c.728-124_728-123insGCGGGGAGAGGGAGAGGGAG | XP_006712854.1:n.728-124_728-123insGCGGGGAGAGGGAGAGGGAG | |
| XM_006712793.2:c.*30-124_*30-123insGCGGGGAGAGGGAGAGGGAG | XP_006712856.1:n.*30-124_*30-123insGCGGGGAGAGGGAGAGGGAG | |
| XM_011511969.1:c.368-124_368-123insGCGGGGAGAGGGAGAGGGAG | XP_011510271.1:n.368-124_368-123insGCGGGGAGAGGGAGAGGGAG | |
| XR_923035.1:n.1072-124_1072-123insGCGGGGAGAGGGAGAGGGAG | ||
| XM_005246885.2:c.935-124_935-123insGCGGGGAGAGGGAGAGGGAG | XP_005246942.1:n.935-124_935-123insGCGGGGAGAGGGAGAGGGAG | |
| XM_005246886.2:c.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | XP_005246943.1:n.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | |
| XM_005246887.2:c.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | XP_005246944.1:n.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | |
| XM_005246888.2:c.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | XP_005246945.1:n.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | |
| XM_005246889.2:c.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | XP_005246946.1:n.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | |
| XM_005246890.4:c.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | XP_005246947.1:n.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | |
| XM_005246891.5:c.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | XP_005246948.1:n.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | |
| XM_005246892.2:c.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | XP_005246949.1:n.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | |
| XM_005246893.3:c.*30-124_*30-123insGCGGGGAGAGGGAGAGGGAG | XP_005246950.1:n.*30-124_*30-123insGCGGGGAGAGGGAGAGGGAG | |
| XM_005246894.4:c.206-124_206-123insGCGGGGAGAGGGAGAGGGAG | XP_005246951.1:n.206-124_206-123insGCGGGGAGAGGGAGAGGGAG | |
| XM_005246895.3:c.*30-124_*30-123insGCGGGGAGAGGGAGAGGGAG | XP_005246952.1:n.*30-124_*30-123insGCGGGGAGAGGGAGAGGGAG | |
| XM_006712789.2:c.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | XP_006712852.1:n.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | |
| XM_006712790.4:c.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | XP_006712853.1:n.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | |
| XM_006712793.3:c.*30-124_*30-123insGCGGGGAGAGGGAGAGGGAG | XP_006712856.1:n.*30-124_*30-123insGCGGGGAGAGGGAGAGGGAG | |
| XM_011511969.2:c.368-124_368-123insGCGGGGAGAGGGAGAGGGAG | XP_011510271.1:n.368-124_368-123insGCGGGGAGAGGGAGAGGGAG | |
| XR_001738971.1:n.1150-124_1150-123insGCGGGGAGAGGGAGAGGGAG | ||
| NM_001080124.2:c.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | NP_001073593.1:n.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001080125.2:c.980-124_980-123insGCGGGGAGAGGGAGAGGGAG | NP_001073594.1:n.980-124_980-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001372051.1:c.803-124_803-123insGCGGGGAGAGGGAGAGGGAG MANE Select | NP_001358980.1:n.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_033356.4:c.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | NP_203520.1:n.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | |
| NR_111983.2:n.1313-124_1313-123insGCGGGGAGAGGGAGAGGGAG | ||
| NM_001400642.1:c.935-124_935-123insGCGGGGAGAGGGAGAGGGAG | NP_001387571.1:n.935-124_935-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400645.1:c.836-124_836-123insGCGGGGAGAGGGAGAGGGAG | NP_001387574.1:n.836-124_836-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400648.1:c.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | NP_001387577.1:n.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400651.1:c.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | NP_001387580.1:n.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400653.1:c.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | NP_001387582.1:n.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400654.1:c.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | NP_001387583.1:n.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400655.1:c.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | NP_001387584.1:n.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400656.1:c.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | NP_001387585.1:n.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400657.1:c.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | NP_001387586.1:n.803-124_803-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400658.1:c.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | NP_001387587.1:n.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400659.1:c.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | NP_001387588.1:n.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400660.1:c.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | NP_001387589.1:n.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400661.1:c.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | NP_001387590.1:n.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400662.1:c.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | NP_001387591.1:n.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400663.1:c.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | NP_001387592.1:n.758-124_758-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400664.1:c.734-124_734-123insGCGGGGAGAGGGAGAGGGAG | NP_001387593.1:n.734-124_734-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400665.1:c.728-124_728-123insGCGGGGAGAGGGAGAGGGAG | NP_001387594.1:n.728-124_728-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400666.1:c.596-124_596-123insGCGGGGAGAGGGAGAGGGAG | NP_001387595.1:n.596-124_596-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400667.1:c.551-124_551-123insGCGGGGAGAGGGAGAGGGAG | NP_001387596.1:n.551-124_551-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400668.1:c.551-124_551-123insGCGGGGAGAGGGAGAGGGAG | NP_001387597.1:n.551-124_551-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400669.1:c.494-124_494-123insGCGGGGAGAGGGAGAGGGAG | NP_001387598.1:n.494-124_494-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400670.1:c.803-571_803-570insGCGGGGAGAGGGAGAGGGAG | NP_001387599.1:n.803-571_803-570insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400671.1:c.206-124_206-123insGCGGGGAGAGGGAGAGGGAG | NP_001387600.1:n.206-124_206-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400672.1:c.206-124_206-123insGCGGGGAGAGGGAGAGGGAG | NP_001387601.1:n.206-124_206-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400673.1:c.206-124_206-123insGCGGGGAGAGGGAGAGGGAG | NP_001387602.1:n.206-124_206-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400674.1:c.188-124_188-123insGCGGGGAGAGGGAGAGGGAG | NP_001387603.1:n.188-124_188-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400675.1:c.161-124_161-123insGCGGGGAGAGGGAGAGGGAG | NP_001387604.1:n.161-124_161-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400676.1:c.161-124_161-123insGCGGGGAGAGGGAGAGGGAG | NP_001387605.1:n.161-124_161-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400677.1:c.161-124_161-123insGCGGGGAGAGGGAGAGGGAG | NP_001387606.1:n.161-124_161-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400678.1:c.161-124_161-123insGCGGGGAGAGGGAGAGGGAG | NP_001387607.1:n.161-124_161-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400680.1:c.188-124_188-123insGCGGGGAGAGGGAGAGGGAG | NP_001387609.1:n.188-124_188-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400750.1:c.206-124_206-123insGCGGGGAGAGGGAGAGGGAG | NP_001387679.1:n.206-124_206-123insGCGGGGAGAGGGAGAGGGAG | |
| NM_001400751.1:c.161-124_161-123insGCGGGGAGAGGGAGAGGGAG | NP_001387680.1:n.161-124_161-123insGCGGGGAGAGGGAGAGGGAG | |
| NR_174564.1:n.892-124_892-123insGCGGGGAGAGGGAGAGGGAG | ||
| NR_174565.1:n.1022-124_1022-123insGCGGGGAGAGGGAGAGGGAG | ||
| NR_174581.1:n.1048-124_1048-123insGCGGGGAGAGGGAGAGGGAG | ||
| NR_174583.1:n.1154-124_1154-123insGCGGGGAGAGGGAGAGGGAG | ||
| NR_174584.1:n.1067-124_1067-123insGCGGGGAGAGGGAGAGGGAG | ||
| NR_174585.1:n.1085-124_1085-123insGCGGGGAGAGGGAGAGGGAG | ||
| NR_174586.1:n.1059-124_1059-123insGCGGGGAGAGGGAGAGGGAG | ||
| NR_174588.1:n.1222-124_1222-123insGCGGGGAGAGGGAGAGGGAG | ||
| NR_174589.1:n.1017-124_1017-123insGCGGGGAGAGGGAGAGGGAG | ||
| NR_174590.1:n.1109-124_1109-123insGCGGGGAGAGGGAGAGGGAG | ||
| NR_174591.1:n.1040-124_1040-123insGCGGGGAGAGGGAGAGGGAG | ||
| NR_174592.1:n.1385-124_1385-123insGCGGGGAGAGGGAGAGGGAG | ||
| NR_174593.1:n.1183-124_1183-123insGCGGGGAGAGGGAGAGGGAG | ||
| NR_174594.1:n.1226-124_1226-123insGCGGGGAGAGGGAGAGGGAG | ||
| NR_174595.1:n.1141-124_1141-123insGCGGGGAGAGGGAGAGGGAG | ||
| NR_174596.1:n.978-124_978-123insGCGGGGAGAGGGAGAGGGAG | ||
| NR_174598.1:n.1336-124_1336-123insGCGGGGAGAGGGAGAGGGAG | ||
| NR_174599.1:n.720-124_720-123insGCGGGGAGAGGGAGAGGGAG | ||
| NR_174600.1:n.1248-124_1248-123insGCGGGGAGAGGGAGAGGGAG | ||
| NR_174601.1:n.1173-124_1173-123insGCGGGGAGAGGGAGAGGGAG | ||
| NR_174602.1:n.1043-124_1043-123insGCGGGGAGAGGGAGAGGGAG |