OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73206238_73206239delinsCT , CM000676.2:g.73206238_73206239delinsCT | GRCh38 |
| NC_000014.8:g.73672946_73672947delinsCT , CM000676.1:g.73672946_73672947delinsCT | GRCh37 |
| NC_000014.7:g.72742699_72742700delinsCT | NCBI36 |
| NG_007386.2:g.74768_74769delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553599.6:c.857-148_857-147delinsCT | ENSP00000452477.2:n.857-148_857-147delinsCT | |
| ENST00000554131.6:c.869-148_869-147delinsCT | ENSP00000451915.2:n.869-148_869-147delinsCT | |
| ENST00000554995.2:n.1619-148_1619-147delinsCT | ||
| ENST00000555386.6:c.857-148_857-147delinsCT | ENSP00000450845.1:n.857-148_857-147delinsCT | |
| ENST00000556066.2:n.1295-148_1295-147delinsCT | ||
| ENST00000556951.6:c.857-148_857-147delinsCT | ENSP00000450551.2:n.857-148_857-147delinsCT | |
| ENST00000557293.6:c.749-148_749-147delinsCT | ENSP00000451880.2:n.749-148_749-147delinsCT | |
| ENST00000559361.6:c.*813-148_*813-147delinsCT | ENSP00000454156.1:n.*813-148_*813-147delinsCT | |
| ENST00000697912.1:c.857-148_857-147delinsCT | ENSP00000513477.1:n.857-148_857-147delinsCT | |
| ENST00000697913.1:n.1123-148_1123-147delinsCT | ||
| ENST00000700265.1:c.857-148_857-147delinsCT | ENSP00000514901.1:n.857-148_857-147delinsCT | |
| ENST00000700266.1:c.*1081-148_*1081-147delinsCT | ENSP00000514902.1:n.*1081-148_*1081-147delinsCT | |
| ENST00000700267.1:c.869-148_869-147delinsCT | ENSP00000514903.1:n.869-148_869-147delinsCT | |
| ENST00000700268.1:c.869-148_869-147delinsCT | ENSP00000514904.1:n.869-148_869-147delinsCT | |
| ENST00000700269.1:c.869-148_869-147delinsCT | ENSP00000514905.1:n.869-148_869-147delinsCT | |
| ENST00000700270.1:n.1125-148_1125-147delinsCT | ||
| ENST00000700271.1:c.857-148_857-147delinsCT | ENSP00000514906.1:n.857-148_857-147delinsCT | |
| ENST00000700272.1:c.*813-148_*813-147delinsCT | ENSP00000514907.1:n.*813-148_*813-147delinsCT | |
| ENST00000700273.1:c.857-148_857-147delinsCT | ENSP00000514908.1:n.857-148_857-147delinsCT | |
| ENST00000700302.1:c.869-148_869-147delinsCT | ENSP00000514929.1:n.869-148_869-147delinsCT | |
| ENST00000700303.1:c.*531-148_*531-147delinsCT | ENSP00000514930.1:n.*531-148_*531-147delinsCT | |
| ENST00000700304.1:c.*813-148_*813-147delinsCT | ENSP00000514931.1:n.*813-148_*813-147delinsCT | |
| ENST00000700305.1:c.*427-148_*427-147delinsCT | ENSP00000514932.1:n.*427-148_*427-147delinsCT | |
| ENST00000700306.1:c.869-148_869-147delinsCT | ENSP00000514933.1:n.869-148_869-147delinsCT | |
| ENST00000700307.1:c.770-148_770-147delinsCT | ENSP00000514934.1:n.770-148_770-147delinsCT | |
| ENST00000700308.1:c.*813-148_*813-147delinsCT | ENSP00000514935.1:n.*813-148_*813-147delinsCT | |
| ENST00000700309.1:c.*958-148_*958-147delinsCT | ENSP00000514936.1:n.*958-148_*958-147delinsCT | |
| ENST00000700310.1:c.758-148_758-147delinsCT | ENSP00000514937.1:n.758-148_758-147delinsCT | |
| ENST00000700311.1:c.869-148_869-147delinsCT | ENSP00000514938.1:n.869-148_869-147delinsCT | |
| ENST00000700312.1:c.620-148_620-147delinsCT | ENSP00000514939.1:n.620-148_620-147delinsCT | |
| ENST00000700313.1:c.857-148_857-147delinsCT | ENSP00000514940.1:n.857-148_857-147delinsCT | |
| ENST00000700314.1:c.*808-148_*808-147delinsCT | ENSP00000514941.1:n.*808-148_*808-147delinsCT | |
| ENST00000700315.1:c.*427-148_*427-147delinsCT | ENSP00000514942.1:n.*427-148_*427-147delinsCT | |
| ENST00000700316.1:c.*649-148_*649-147delinsCT | ENSP00000514943.1:n.*649-148_*649-147delinsCT | |
| ENST00000700317.1:c.869-148_869-147delinsCT | ENSP00000514944.1:n.869-148_869-147delinsCT | |
| ENST00000700318.1:c.*531-148_*531-147delinsCT | ENSP00000514945.1:n.*531-148_*531-147delinsCT | |
| ENST00000700319.1:c.*309-148_*309-147delinsCT | ENSP00000514946.1:n.*309-148_*309-147delinsCT | |
| ENST00000700320.1:c.896-148_896-147delinsCT | ENSP00000514947.1:n.896-148_896-147delinsCT | |
| ENST00000700321.1:c.869-148_869-147delinsCT | ENSP00000514948.1:n.869-148_869-147delinsCT | |
| ENST00000700322.1:c.857-148_857-147delinsCT | ENSP00000514949.1:n.857-148_857-147delinsCT | |
| ENST00000700323.1:c.869-148_869-147delinsCT | ENSP00000514950.1:n.869-148_869-147delinsCT | |
| ENST00000700324.1:c.857-148_857-147delinsCT | ENSP00000514951.1:n.857-148_857-147delinsCT | |
| ENST00000700375.1:c.869-148_869-147delinsCT | ENSP00000514966.1:n.869-148_869-147delinsCT | |
| ENST00000700377.1:c.*337-148_*337-147delinsCT | ENSP00000514967.1:n.*337-148_*337-147delinsCT | |
| ENST00000700378.1:c.869-148_869-147delinsCT | ENSP00000514968.1:n.869-148_869-147delinsCT | |
| ENST00000700379.1:n.1267-148_1267-147delinsCT | ||
| ENST00000700389.1:c.857-148_857-147delinsCT | ENSP00000514970.1:n.857-148_857-147delinsCT | |
| ENST00000700390.1:n.2580-148_2580-147delinsCT | ||
| ENST00000700391.1:n.79+73_79+74delinsCT | ||
| ENST00000700404.1:n.1868-148_1868-147delinsCT | ||
| ENST00000700433.1:n.1120-148_1120-147delinsCT | ||
| ENST00000700434.1:n.1122-148_1122-147delinsCT | ||
| ENST00000700435.1:n.1004-148_1004-147delinsCT | ||
| ENST00000700436.1:c.869-148_869-147delinsCT | ENSP00000514987.1:n.869-148_869-147delinsCT | |
| ENST00000700437.1:c.620-148_620-147delinsCT | ENSP00000514988.1:n.620-148_620-147delinsCT | |
| ENST00000700467.1:n.1126-148_1126-147delinsCT | ||
| ENST00000700468.1:c.758-148_758-147delinsCT | ENSP00000515001.1:n.758-148_758-147delinsCT | |
| ENST00000700469.1:c.857-148_857-147delinsCT | ENSP00000515002.1:n.857-148_857-147delinsCT | |
| ENST00000324501.10:c.869-148_869-147delinsCT MANE Select | ENSP00000326366.5:n.869-148_869-147delinsCT | |
| ENST00000324501.9:c.869-148_869-147delinsCT | ENSP00000326366.5:n.869-148_869-147delinsCT | |
| ENST00000357710.8:c.857-148_857-147delinsCT | ENSP00000350342.4:n.857-148_857-147delinsCT | |
| ENST00000394164.5:c.857-148_857-147delinsCT | ENSP00000377719.1:n.857-148_857-147delinsCT | |
| ENST00000406768.1:c.593-148_593-147delinsCT | ENSP00000385948.1:n.593-148_593-147delinsCT | |
| ENST00000553855.5:c.869-148_869-147delinsCT | ENSP00000452242.1:n.869-148_869-147delinsCT | |
| ENST00000554995.1:n.421-148_421-147delinsCT | ||
| ENST00000555386.5:c.857-148_857-147delinsCT | ENSP00000450845.1:n.857-148_857-147delinsCT | |
| ENST00000555867.1:n.86_87delinsCT | ||
| ENST00000557511.5:c.869-148_869-147delinsCT | ENSP00000451429.1:n.869-148_869-147delinsCT | |
| NM_000021.3:c.869-148_869-147delinsCT | NP_000012.1:n.869-148_869-147delinsCT | |
| NM_007318.2:c.857-148_857-147delinsCT | NP_015557.2:n.857-148_857-147delinsCT | |
| XM_005267864.1:c.869-148_869-147delinsCT | XP_005267921.1:n.869-148_869-147delinsCT | |
| XM_005267866.1:c.857-148_857-147delinsCT | XP_005267923.1:n.857-148_857-147delinsCT | |
| XM_011536971.1:c.869-148_869-147delinsCT | XP_011535273.1:n.869-148_869-147delinsCT | |
| XM_011536972.1:c.869-148_869-147delinsCT | XP_011535274.1:n.869-148_869-147delinsCT | |
| XM_011536973.1:c.857-148_857-147delinsCT | XP_011535275.1:n.857-148_857-147delinsCT | |
| XM_011536974.1:c.857-148_857-147delinsCT | XP_011535276.1:n.857-148_857-147delinsCT | |
| XM_005267864.3:c.869-148_869-147delinsCT | XP_005267921.1:n.869-148_869-147delinsCT | |
| XM_005267866.2:c.857-148_857-147delinsCT | XP_005267923.1:n.857-148_857-147delinsCT | |
| XM_011536972.2:c.869-148_869-147delinsCT | XP_011535274.1:n.869-148_869-147delinsCT | |
| XM_011536973.2:c.857-148_857-147delinsCT | XP_011535275.1:n.857-148_857-147delinsCT | |
| XM_011536974.2:c.857-148_857-147delinsCT | XP_011535276.1:n.857-148_857-147delinsCT | |
| NM_000021.4:c.869-148_869-147delinsCT MANE Select | NP_000012.1:n.869-148_869-147delinsCT | |
| NM_007318.3:c.857-148_857-147delinsCT | NP_015557.2:n.857-148_857-147delinsCT |