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_000001.11:g.215648713del , CM000663.2:g.215648713del | GRCh38 |
| NC_000001.10:g.215822055del , CM000663.1:g.215822055del | GRCh37 |
| NC_000001.9:g.213888678del | NCBI36 |
| NG_009497.1:g.779684del | |
| NG_009497.2:g.779736del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_206933.4:c.14397del MANE Select | NP_996816.3:p.Asn4800ThrfsTer6 |
| ENST00000307340.8:c.14397del MANE Select | ENSP00000305941.3:p.Asn4800ThrfsTer6 |
| NM_206933.2:c.14397del | NP_996816.2:p.Asn4800ThrfsTer6 |
| NM_206933.3:c.14397del | NP_996816.2:p.Asn4800ThrfsTer6 |
| ENST00000307340.7:c.14397del | ENSP00000305941.3:p.Asn4800ThrfsTer6 |
| ENST00000674083.1:c.14397del | ENSP00000501296.1:p.Asn4800ThrfsTer6 |