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_000002.12:g.207561559_207561560insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA , CM000664.2:g.207561559_207561560insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | GRCh38 |
| NC_000002.11:g.208426283_208426284insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA , CM000664.1:g.208426283_208426284insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | GRCh37 |
| NC_000002.10:g.208134528_208134529insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | NCBI36 |
| NG_023299.1:g.36668_36669insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353267.8:c.261+1187_261+1188insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA MANE Select | ENSP00000236995.3:n.261+1187_261+1188insGTCCAATAGAACAGGAATTAG... | |
| ENST00000353267.7:c.261+1187_261+1188insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | ENSP00000236995.3:n.261+1187_261+1188insGTCCAATAGAACAGGAATTAG... | |
| ENST00000418081.5:c.101+399_101+400insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | ||
| ENST00000421139.5:c.141+1187_141+1188insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | ENSP00000403678.1:n.141+1187_141+1188insGTCCAATAGAACAGGAATTAG... | |
| ENST00000430624.5:c.261+1187_261+1188insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | ENSP00000405539.1:n.261+1187_261+1188insGTCCAATAGAACAGGAATTAG... | |
| ENST00000432329.6:c.303+399_303+400insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | ENSP00000387699.2:n.303+399_303+400insGTCCAATAGAACAGGAATTAGAC... | |
| ENST00000445803.5:c.303+399_303+400insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | ENSP00000407227.1:n.303+399_303+400insGTCCAATAGAACAGGAATTAGAC... | |
| ENST00000448277.5:c.141+1187_141+1188insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | ENSP00000405711.1:n.141+1187_141+1188insGTCCAATAGAACAGGAATTAG... | |
| ENST00000452474.5:c.303+399_303+400insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | ENSP00000392428.1:n.303+399_303+400insGTCCAATAGAACAGGAATTAGAC... | |
| ENST00000457101.5:c.183+399_183+400insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | ENSP00000391125.1:n.183+399_183+400insGTCCAATAGAACAGGAATTAGAC... | |
| ENST00000464407.1:n.232+1187_232+1188insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | ||
| ENST00000480189.5:n.281+1187_281+1188insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | ||
| ENST00000494094.5:n.332+1187_332+1188insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | ||
| NM_004379.3:c.261+1187_261+1188insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | NP_004370.1:n.261+1187_261+1188insGTCCAATAGAACAGGAATTAGACTTGC... | |
| NM_134442.3:c.303+399_303+400insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | NP_604391.1:n.303+399_303+400insGTCCAATAGAACAGGAATTAGACTTGCTA... | |
| XM_011510645.1:c.303+399_303+400insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | XP_011508947.1:n.303+399_303+400insGTCCAATAGAACAGGAATTAGACTTG... | |
| XM_011510646.1:c.303+399_303+400insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | XP_011508948.1:n.303+399_303+400insGTCCAATAGAACAGGAATTAGACTTG... | |
| XM_011510647.1:c.261+1187_261+1188insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | XP_011508949.1:n.261+1187_261+1188insGTCCAATAGAACAGGAATTAGACT... | |
| XM_011510648.1:c.303+399_303+400insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | XP_011508950.1:n.303+399_303+400insGTCCAATAGAACAGGAATTAGACTTG... | |
| XM_011510649.1:c.183+399_183+400insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | XP_011508951.1:n.183+399_183+400insGTCCAATAGAACAGGAATTAGACTTG... | |
| XM_011510650.1:c.183+399_183+400insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | XP_011508952.1:n.183+399_183+400insGTCCAATAGAACAGGAATTAGACTTG... | |
| XM_011510651.1:c.141+1187_141+1188insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | XP_011508953.1:n.141+1187_141+1188insGTCCAATAGAACAGGAATTAGACT... | |
| XM_011510652.1:c.303+399_303+400insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | XP_011508954.1:n.303+399_303+400insGTCCAATAGAACAGGAATTAGACTTG... | |
| XM_011510653.1:c.-321+1187_-321+1188insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | XP_011508955.1:n.-321+1187_-321+1188insGTCCAATAGAACAGGAATTAGA... | |
| XR_241289.1:n.530+399_530+400insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | ||
| XR_241290.1:n.530+399_530+400insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | ||
| XR_241292.1:n.530+399_530+400insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | ||
| XR_427071.1:n.462+1187_462+1188insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | ||
| XR_922862.1:n.318+399_318+400insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | ||
| NM_001320793.1:c.261+1187_261+1188insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | NP_001307722.1:n.261+1187_261+1188insGTCCAATAGAACAGGAATTAGACT... | |
| NM_004379.4:c.261+1187_261+1188insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | NP_004370.1:n.261+1187_261+1188insGTCCAATAGAACAGGAATTAGACTTGC... | |
| NM_134442.4:c.303+399_303+400insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | NP_604391.1:n.303+399_303+400insGTCCAATAGAACAGGAATTAGACTTGCTA... | |
| NR_135473.1:n.554+399_554+400insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | ||
| XM_011510646.3:c.303+399_303+400insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | XP_011508948.1:n.303+399_303+400insGTCCAATAGAACAGGAATTAGACTTG... | |
| XM_011510647.3:c.261+1187_261+1188insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | XP_011508949.1:n.261+1187_261+1188insGTCCAATAGAACAGGAATTAGACT... | |
| XM_011510648.3:c.303+399_303+400insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | XP_011508950.1:n.303+399_303+400insGTCCAATAGAACAGGAATTAGACTTG... | |
| XM_011510650.3:c.183+399_183+400insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | XP_011508952.1:n.183+399_183+400insGTCCAATAGAACAGGAATTAGACTTG... | |
| XM_011510651.2:c.141+1187_141+1188insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | XP_011508953.1:n.141+1187_141+1188insGTCCAATAGAACAGGAATTAGACT... | |
| XM_017003399.2:c.261+1187_261+1188insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | XP_016858888.1:n.261+1187_261+1188insGTCCAATAGAACAGGAATTAGACT... | |
| XM_017003401.2:c.-451+399_-451+400insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | XP_016858890.1:n.-451+399_-451+400insGTCCAATAGAACAGGAATTAGACT... | |
| XR_001738634.2:n.442+1187_442+1188insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | ||
| XR_001738635.2:n.374+1187_374+1188insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | ||
| XR_001738636.2:n.503+399_503+400insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | ||
| XR_001738637.2:n.442+1187_442+1188insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | ||
| XR_241290.2:n.503+399_503+400insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | ||
| XR_241292.2:n.503+399_503+400insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | ||
| NM_004379.5:c.261+1187_261+1188insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA MANE Select | NP_004370.1:n.261+1187_261+1188insGTCCAATAGAACAGGAATTAGACTTGC... | |
| NM_001320793.2:c.261+1187_261+1188insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | NP_001307722.1:n.261+1187_261+1188insGTCCAATAGAACAGGAATTAGACT... | |
| NM_001371426.1:c.303+399_303+400insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | NP_001358355.1:n.303+399_303+400insGTCCAATAGAACAGGAATTAGACTTG... | |
| NM_001371427.1:c.261+1187_261+1188insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | NP_001358356.1:n.261+1187_261+1188insGTCCAATAGAACAGGAATTAGACT... | |
| NM_001371428.1:c.141+1187_141+1188insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | NP_001358357.1:n.141+1187_141+1188insGTCCAATAGAACAGGAATTAGACT... | |
| NM_134442.5:c.303+399_303+400insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | NP_604391.1:n.303+399_303+400insGTCCAATAGAACAGGAATTAGACTTGCTA... | |
| NR_135473.2:n.484+399_484+400insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | ||
| NR_163946.1:n.442+1187_442+1188insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA | ||
| NR_163947.1:n.326+1187_326+1188insGTCCAATAGAACAGGAATTAGACTTGCTAATCTAGTTTCCGAGAATAGCA |