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
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.9996869_9996870insGTCAGAGTGTCTGGGAATATGGACACAGTCACAGACCAGAGCAG , CM000666.2:g.9996869_9996870insGTCAGAGTGTCTGGGAATATGGACACAGTCACAGACCAGAGCAG | GRCh38 |
| NC_000004.11:g.9998493_9998494insGTCAGAGTGTCTGGGAATATGGACACAGTCACAGACCAGAGCAG , CM000666.1:g.9998493_9998494insGTCAGAGTGTCTGGGAATATGGACACAGTCACAGACCAGAGCAG | GRCh37 |
| NC_000004.10:g.9607591_9607592insGTCAGAGTGTCTGGGAATATGGACACAGTCACAGACCAGAGCAG | NCBI36 |
| NG_011540.1:g.48379_48380insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264784.8:c.321_322insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) MANE Select | ENSP00000264784.3:p.Ala118ProfsTer10 | |
| ENST00000264784.7:c.321_322insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | ENSP00000264784.3:p.Ala118ProfsTer10 | |
| ENST00000309065.7:c.234_235insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | ENSP00000311383.3:p.Ala89ProfsTer10 | |
| ENST00000505104.5:n.355_356insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | ||
| ENST00000505506.1:n.173_174insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | ||
| ENST00000506583.5:c.234_235insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | ENSP00000422209.1:p.Ala89ProfsTer10 | |
| ENST00000506839.1:n.321-11077_321-11076insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | ||
| ENST00000513129.1:c.234_235insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | ENSP00000426800.1:p.Ala89ProfsTer10 | |
| NM_001001290.1:c.234_235insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | NP_001001290.1:p.Ala89ProfsTer10 | |
| NM_020041.2:c.321_322insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | NP_064425.2:p.Ala118ProfsTer10 | |
| XM_006713968.2:c.321_322insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | XP_006714031.1:p.Ala118ProfsTer10 | |
| XM_006713969.2:c.234_235insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | XP_006714032.1:p.Ala89ProfsTer10 | |
| XM_011513856.1:c.321_322insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | XP_011512158.1:p.Ala118ProfsTer10 | |
| XM_011513857.1:c.234_235insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | XP_011512159.1:p.Ala89ProfsTer10 | |
| XM_011513858.1:c.234_235insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | XP_011512160.1:p.Ala89ProfsTer10 | |
| XM_011513859.1:c.321_322insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | XP_011512161.1:p.Ala118ProfsTer10 | |
| XM_011513860.1:c.321_322insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | XP_011512162.1:p.Ala118ProfsTer10 | |
| XM_011513861.1:c.321_322insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | XP_011512163.1:p.Ala118ProfsTer10 | |
| XM_011513862.1:c.15-11077_15-11076insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | XP_011512164.1:n.15-11077_15-11076insCTGCTCTGGTCTGTGACTGTGTCC... | |
| XM_011513863.1:c.15-11077_15-11076insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | XP_011512165.1:n.15-11077_15-11076insCTGCTCTGGTCTGTGACTGTGTCC... | |
| XM_011513865.1:c.321_322insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | XP_011512167.1:p.Ala118ProfsTer10 | |
| XM_011513866.1:c.321_322insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | XP_011512168.1:p.Ala118ProfsTer10 | |
| XM_011513868.1:c.321_322insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | XP_011512170.1:p.Ala118ProfsTer10 | |
| XR_925341.1:n.417_418insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | ||
| XR_925367.1:n.449-2224_449-2223insGTCAGAGTGTCTGGGAATATGGACACAGTCACAGACCAGAGCAG (SLC2A9-AS1) | ||
| XM_006713968.4:c.321_322insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | XP_006714031.1:p.Ala118ProfsTer10 | |
| XM_011513856.3:c.321_322insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | XP_011512158.1:p.Ala118ProfsTer10 | |
| XM_011513859.3:c.321_322insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | XP_011512161.1:p.Ala118ProfsTer10 | |
| XM_011513860.3:c.321_322insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | XP_011512162.1:p.Ala118ProfsTer10 | |
| XM_011513861.3:c.321_322insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | XP_011512163.1:p.Ala118ProfsTer10 | |
| XM_011513862.3:c.15-11077_15-11076insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | XP_011512164.1:n.15-11077_15-11076insCTGCTCTGGTCTGTGACTGTGTCC... | |
| XM_011513865.2:c.321_322insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | XP_011512167.1:p.Ala118ProfsTer10 | |
| XM_011513866.2:c.321_322insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | XP_011512168.1:p.Ala118ProfsTer10 | |
| XM_011513868.2:c.321_322insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | XP_011512170.1:p.Ala118ProfsTer10 | |
| XM_017008457.2:c.321_322insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | XP_016863946.1:p.Ala118ProfsTer10 | |
| XM_017008458.2:c.321_322insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | XP_016863947.1:p.Ala118ProfsTer10 | |
| XM_017008460.2:c.15-11077_15-11076insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | XP_016863949.1:n.15-11077_15-11076insCTGCTCTGGTCTGTGACTGTGTCC... | |
| XM_024454150.1:c.321_322insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | XP_024309918.1:p.Ala118ProfsTer10 | |
| XM_024454151.1:c.-67_-66insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | XP_024309919.1:n.-67_-66insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAG... | |
| XM_024454152.1:c.321_322insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | XP_024309920.1:p.Ala118ProfsTer10 | |
| XM_024454153.1:c.321_322insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | XP_024309921.1:p.Ala118ProfsTer10 | |
| XR_001741290.1:n.494_495insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | ||
| XR_001741291.1:n.494_495insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | ||
| XR_001741589.1:n.596-2224_596-2223insGTCAGAGTGTCTGGGAATATGGACACAGTCACAGACCAGAGCAG (SLC2A9-AS1) | ||
| XR_001741590.1:n.246-2224_246-2223insGTCAGAGTGTCTGGGAATATGGACACAGTCACAGACCAGAGCAG (SLC2A9-AS1) | ||
| XR_001741591.1:n.246-2224_246-2223insGTCAGAGTGTCTGGGAATATGGACACAGTCACAGACCAGAGCAG (SLC2A9-AS1) | ||
| XR_001741592.1:n.246-2224_246-2223insGTCAGAGTGTCTGGGAATATGGACACAGTCACAGACCAGAGCAG (SLC2A9-AS1) | ||
| XR_925341.3:n.498_499insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | ||
| NM_020041.3:c.321_322insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) MANE Select | NP_064425.2:p.Ala118ProfsTer10 | |
| NM_001001290.2:c.234_235insCTGCTCTGGTCTGTGACTGTGTCCATATTCCCAGACACTCTGAC (SLC2A9) | NP_001001290.1:p.Ala89ProfsTer10 |