SERVICES INTERRUPTION:2026-08-07T10:00:00-0500 — 2026-08-14T18:00:00-0500
Allele Registry, ERepo, and Actionability user interface services may experience intermittent service interruptions during this period.
To mitigate the recent excessive usage resembling Distributed Denial of Service attack on select Baylor ClinGen user interfaces, we may require users to log in to access the ClinGen Allele Registry user interface. This would be one of several measures under consideration to address the issue. If implemented, the login requirement may be temporary or permanent.
Allele Registry, ERepo, and Actionability user interface services may experience intermittent service interruptions during this period.
To mitigate the recent excessive usage resembling Distributed Denial of Service attack on select Baylor ClinGen user interfaces, we may require users to log in to access the ClinGen Allele Registry user interface. This would be one of several measures under consideration to address the issue. If implemented, the login requirement may be temporary or permanent.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77454101A>C , CM000676.2:g.77454101A>C | GRCh38 |
| NC_000014.8:g.77920444A>C , CM000676.1:g.77920444A>C | GRCh37 |
| NC_000014.7:g.76990197A>C | NCBI36 |
| NG_023421.1:g.8540T>G | |
| NG_023421.2:g.8540T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001193315.2:c.2T>G MANE Select | NP_001180244.1:p.Met1Arg |
| ENST00000557658.6:c.2T>G MANE Select | ENSP00000452191.1:p.Met1Arg |
| NM_001193314.1:c.2T>G | NP_001180243.1:p.Met1Arg |
| NM_001193314.2:c.2T>G | NP_001180243.1:p.Met1Arg |
| NM_001193315.1:c.2T>G | NP_001180244.1:p.Met1Arg |
| NM_001193316.1:c.2T>G | NP_001180245.1:p.Met1Arg |
| NM_001193316.2:c.2T>G | NP_001180245.1:p.Met1Arg |
| NM_001193317.1:c.2T>G | NP_001180246.1:p.Met1Arg |
| NM_001193317.2:c.2T>G | NP_001180246.1:p.Met1Arg |
| NM_001400324.1:c.2T>G | NP_001387253.1:p.Met1Arg |
| NM_001400325.1:c.2T>G | NP_001387254.1:p.Met1Arg |
| NM_001400326.1:c.2T>G | NP_001387255.1:p.Met1Arg |
| NM_001400327.1:c.2T>G | NP_001387256.1:p.Met1Arg |
| NM_001400330.1:c.2T>G | NP_001387259.1:p.Met1Arg |
| NM_001400331.1:c.2T>G | NP_001387260.1:p.Met1Arg |
| NM_001400332.1:c.2T>G | NP_001387261.1:p.Met1Arg |
| NM_001400333.1:c.2T>G | NP_001387262.1:p.Met1Arg |
| NM_001400334.1:c.2T>G | NP_001387263.1:p.Met1Arg |
| NM_001400335.1:c.2T>G | NP_001387264.1:p.Met1Arg |
| NM_001400336.1:c.2T>G | NP_001387265.1:p.Met1Arg |
| NM_001400337.1:c.2T>G | NP_001387266.1:p.Met1Arg |
| NM_001400338.1:c.2T>G | NP_001387267.1:p.Met1Arg |
| NM_001400339.1:c.2T>G | NP_001387268.1:p.Met1Arg |
| NM_022067.3:c.2T>G | NP_071350.2:p.Met1Arg |
| NM_022067.4:c.2T>G | NP_071350.2:p.Met1Arg |
| NR_174476.1:n.109T>G | |
| ENST00000327028.8:c.2T>G | ENSP00000313098.5:p.Met1Arg |
| ENST00000343765.6:c.2T>G | ENSP00000339122.2:p.Met1Arg |
| ENST00000448935.6:c.2T>G | ENSP00000404815.2:p.Met1Arg |
| ENST00000553888.5:c.2T>G | ENSP00000452181.1:p.Met1Arg |
| ENST00000556412.4:c.80T>G | ENSP00000451857.1:p.Met27Arg |
| ENST00000557466.1:c.2T>G | ENSP00000452176.1:p.Met1Arg |
| ENST00000557658.5:c.2T>G | ENSP00000452191.1:p.Met1Arg |
| XM_011537066.1:c.2T>G | XP_011535368.1:p.Met1Arg |
| XM_011537066.2:c.2T>G | XP_011535368.1:p.Met1Arg |
| XM_017021580.2:c.2T>G | XP_016877069.1:p.Met1Arg |
| XM_017021581.2:c.2T>G | XP_016877070.1:p.Met1Arg |
| XM_024449688.1:c.2T>G | XP_024305456.1:p.Met1Arg |
| XR_001750501.2:n.124T>G |