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_000003.12:g.10141886_10141990del , CM000665.2:g.10141886_10141990del | GRCh38 |
| NC_000003.11:g.10183570_10183674del , CM000665.1:g.10183570_10183674del | GRCh37 |
| NC_000003.10:g.10158570_10158674del | NCBI36 |
| NG_008212.3:g.5252_5356del , LRG_322:g.5252_5356del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000551.4:c.39_143del MANE Select | NP_000542.1:p.Gly14_Leu48del |
| ENST00000256474.3:c.39_143del MANE Select | ENSP00000256474.3:p.Gly14_Leu48del |
| NM_000551.3:c.39_143del , LRG_322t1:c.39_143del | NP_000542.1:p.Gly14_Leu48del |
| NM_001354723.1:c.39_143del | NP_001341652.1:p.Gly14_Leu48del |
| NM_001354723.2:c.39_143del | NP_001341652.1:p.Gly14_Leu48del |
| NM_198156.2:c.39_143del | NP_937799.1:p.Gly14_Leu48del |
| NM_198156.3:c.39_143del | NP_937799.1:p.Gly14_Leu48del |
| ENST00000256474.2:c.39_143del | ENSP00000256474.2:p.Gly14_Leu48del |
| ENST00000345392.2:c.39_143del | ENSP00000344757.2:p.Gly14_Leu48del |
| ENST00000696142.1:c.39_143del | ENSP00000512434.1:p.Gly14_Leu48del |
| ENST00000696143.1:c.39_143del | ENSP00000512435.1:p.Gly14_Leu48del |
| ENST00000696153.1:c.39_143del | ENSP00000512444.1:p.Gly14_Leu48del |
| XM_011534078.1:c.39_143del | XP_011532380.1:p.Gly14_Leu48del |