SERVICES INTERRUPTION - MAINTENANCE: 2026-06-27T10:00:00-0500 — 2026-06-27T14:00:00-0500
Multiple UI & API services will be unavailable during this window, including those of Allele Registry, CSpec, ERepo, LDH, and ACI.
The maintenance will upgrade a key machine used by these services.
The interruptions are expected to be shorter than the full maintenance activity window.
Multiple UI & API services will be unavailable during this window, including those of Allele Registry, CSpec, ERepo, LDH, and ACI.
The maintenance will upgrade a key machine used by these services.
The interruptions are expected to be shorter than the full maintenance activity window.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30224720C= , CM000679.2:g.30224720C= | GRCh38 |
| NC_000017.10:g.28551738C= , CM000679.1:g.28551738C= | GRCh37 |
| NC_000017.9:g.25575864C= | NCBI36 |
| NG_011747.2:g.16217G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001045.6:c.-220-1805G= MANE Select | NP_001036.1:n.-220-1805G= |
| ENST00000650711.1:c.-220-1805G= MANE Select | ENSP00000498537.1:n.-220-1805G= |
| NM_001045.5:c.-220-1805G= | NP_001036.1:n.-220-1805G= |
| ENST00000261707.7:c.-220-1805G= | ENSP00000261707.3:n.-220-1805G= |
| ENST00000394821.2:c.-220-1805G= | ENSP00000378298.2:n.-220-1805G= |
| ENST00000401766.6:c.-123-2639G= | ENSP00000385822.2:n.-123-2639G= |