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_000013.11:g.51935019G= , CM000675.2:g.51935019G= | GRCh38 |
| NC_000013.10:g.52509155G= , CM000675.1:g.52509155G= | GRCh37 |
| NC_000013.9:g.51407156G= | NCBI36 |
| NG_008806.1:g.81476C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000053.4:c.4135C= MANE Select | NP_000044.2:p.Pro1379= |
| ENST00000242839.10:c.4135C= MANE Select | ENSP00000242839.5:p.Pro1379= |
| NM_000053.3:c.4135C= | NP_000044.2:p.Pro1379= |
| NM_001005918.2:c.3514C= | NP_001005918.1:p.Pro1172= |
| NM_001005918.3:c.3514C= | NP_001005918.1:p.Pro1172= |
| NM_001243182.1:c.3802C= | NP_001230111.1:p.Pro1268= |
| NM_001243182.2:c.3802C= | NP_001230111.1:p.Pro1268= |
| NM_001330578.1:c.3901C= | NP_001317507.1:p.Pro1301= |
| NM_001330578.2:c.3901C= | NP_001317507.1:p.Pro1301= |
| NM_001330579.1:c.3883C= | NP_001317508.1:p.Pro1295= |
| NM_001330579.2:c.3883C= | NP_001317508.1:p.Pro1295= |
| ENST00000242839.8:c.4135C= | ENSP00000242839.4:p.Pro1379= |
| ENST00000344297.8:c.3514C= | ENSP00000342559.5:p.Pro1172= |
| ENST00000344297.9:c.3514C= | ENSP00000342559.5:p.Pro1172= |
| ENST00000400366.5:c.3802C= | ENSP00000383217.3:p.Pro1268= |
| ENST00000400366.6:c.3802C= | ENSP00000383217.3:p.Pro1268= |
| ENST00000400370.8:c.2845C= | ENSP00000383221.3:p.Pro949= |
| ENST00000418097.7:c.3940C= | ENSP00000393343.2:p.Pro1314= |
| ENST00000448424.6:c.3901C= | ENSP00000416738.2:p.Pro1301= |
| ENST00000448424.7:c.3883C= | ENSP00000416738.3:p.Pro1295= |
| ENST00000634296.1:c.1913C= | |
| ENST00000634296.2:c.*1785C= | ENSP00000489512.2:n.*1785C= |
| ENST00000634308.1:c.*1236C= | ENSP00000489234.1:n.*1236C= |
| ENST00000634620.1:n.4879C= | |
| ENST00000634810.1:n.3480C= | |
| ENST00000634844.1:c.3991C= | ENSP00000489398.1:p.Pro1331= |
| ENST00000673696.1:n.1458C= | |
| ENST00000673772.1:c.3901C= | ENSP00000501168.1:p.Pro1301= |
| ENST00000673864.2:c.*2879C= | ENSP00000501045.2:n.*2879C= |
| ENST00000673867.1:n.4274C= | |
| ENST00000673923.1:n.1001C= | |
| ENST00000674147.1:c.3070C= | ENSP00000500964.1:p.Pro1024= |
| ENST00000674147.2:c.3514C= | ENSP00000500964.2:p.Pro1172= |
| XM_005266423.2:c.4039C= | XP_005266480.1:p.Pro1347= |
| XM_005266424.3:c.4039C= | XP_005266481.1:p.Pro1347= |
| XM_005266424.4:c.4039C= | XP_005266481.1:p.Pro1347= |
| XM_005266427.2:c.3901C= | XP_005266484.1:p.Pro1301= |
| XM_005266428.1:c.3883C= | XP_005266485.1:p.Pro1295= |
| XM_005266430.3:c.4135C= | XP_005266487.1:p.Pro1379= |
| XM_005266430.4:c.4135C= | XP_005266487.1:p.Pro1379= |
| XM_005266431.2:c.4099C= | XP_005266488.1:p.Pro1367= |
| XM_005266431.4:c.4099C= | XP_005266488.1:p.Pro1367= |
| XM_005266432.2:c.3649C= | XP_005266489.1:p.Pro1217= |
| XM_006719837.2:c.4039C= | XP_006719900.1:p.Pro1347= |
| XM_006719837.3:c.4039C= | XP_006719900.1:p.Pro1347= |
| XM_006719838.1:c.1951C= | XP_006719901.1:p.Pro651= |
| XM_006719839.1:c.1768C= | XP_006719902.1:p.Pro590= |
| XM_011535117.1:c.4039C= | XP_011533419.1:p.Pro1347= |
| XM_011535117.3:c.4039C= | XP_011533419.1:p.Pro1347= |
| XM_011535118.1:c.4000C= | XP_011533420.1:p.Pro1334= |
| XM_011535119.1:c.3952C= | XP_011533421.1:p.Pro1318= |
| XM_011535120.1:c.3721C= | XP_011533422.1:p.Pro1241= |
| XM_011535121.1:c.3622C= | XP_011533423.1:p.Pro1208= |
| XM_011535122.1:c.2803C= | XP_011533424.1:p.Pro935= |
| XM_017020627.1:c.4039C= | XP_016876116.1:p.Pro1347= |
| XR_941601.1:n.4354C= | |
| XR_941602.1:n.4354C= | |
| XR_941603.1:n.4354C= | |
| XR_941604.1:n.4354C= |