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
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38557285_38557286insACCTGCAGAAGGGCCAGGTACCCGGCCCCCACGTTGTCAAAGTTGACTTTCACCTTGGTCCAGTACAATTCTCCGGTCAAGTTCAAGGACTCACACTGGCTCTTGTTGTTCACGATGGTG , CM000665.2:g.38557285_38557286insACCTGCAGAAGGGCCAGGTACCCGGCCCCCACGTTGTCAAAGTTGACTTTCACCTTGGTCCAGTACAATTCTCCGGTCAAGTTCAAGGACTCACACTGGCTCTTGTTGTTCACGATGGTG | GRCh38 |
| NC_000003.11:g.38598776_38598777insACCTGCAGAAGGGCCAGGTACCCGGCCCCCACGTTGTCAAAGTTGACTTTCACCTTGGTCCAGTACAATTCTCCGGTCAAGTTCAAGGACTCACACTGGCTCTTGTTGTTCACGATGGTG , CM000665.1:g.38598776_38598777insACCTGCAGAAGGGCCAGGTACCCGGCCCCCACGTTGTCAAAGTTGACTTTCACCTTGGTCCAGTACAATTCTCCGGTCAAGTTCAAGGACTCACACTGGCTCTTGTTGTTCACGATGGTG | GRCh37 |
| NC_000003.10:g.38573780_38573781insACCTGCAGAAGGGCCAGGTACCCGGCCCCCACGTTGTCAAAGTTGACTTTCACCTTGGTCCAGTACAATTCTCCGGTCAAGTTCAAGGACTCACACTGGCTCTTGTTGTTCACGATGGTG | NCBI36 |
| NG_008934.1:g.97387_97388insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT , LRG_289:g.97387_97388insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327956.7:c.4243-2_4243-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT | ENSP00000333674.7:n.4243-2_4243-1insCACCATCGTGAACAACAAGAGCCAG... | |
| ENST00000333535.9:c.4246-2_4246-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT | ENSP00000328968.4:n.4246-2_4246-1insCACCATCGTGAACAACAAGAGCCAG... | |
| ENST00000413689.6:c.4246-2_4246-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT MANE Plus Clinical | ENSP00000410257.1:n.4246-2_4246-1insCACCATCGTGAACAACAAGAGCCAG... | |
| ENST00000423572.7:c.4243-2_4243-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT MANE Select | ENSP00000398266.2:n.4243-2_4243-1insCACCATCGTGAACAACAAGAGCCAG... | |
| ENST00000333535.8:c.4246-2_4246-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT | ENSP00000328968.4:n.4246-2_4246-1insCACCATCGTGAACAACAAGAGCCAG... | |
| ENST00000413689.5:c.4246-2_4246-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT | ENSP00000410257.1:n.4246-2_4246-1insCACCATCGTGAACAACAAGAGCCAG... | |
| ENST00000414099.6:c.4246-708_4246-707insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT | ENSP00000398962.2:n.4246-708_4246-707insCACCATCGTGAACAACAAGAG... | |
| ENST00000423572.6:c.4243-2_4243-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT | ENSP00000398266.2:n.4243-2_4243-1insCACCATCGTGAACAACAAGAGCCAG... | |
| ENST00000425664.5:c.4246-708_4246-707insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT | ENSP00000416634.1:n.4246-708_4246-707insCACCATCGTGAACAACAAGAG... | |
| ENST00000449557.6:c.4084-2_4084-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT | ENSP00000413996.2:n.4084-2_4084-1insCACCATCGTGAACAACAAGAGCCAG... | |
| ENST00000450102.6:c.4084-2_4084-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT | ENSP00000403355.2:n.4084-2_4084-1insCACCATCGTGAACAACAAGAGCCAG... | |
| ENST00000451551.6:c.4084-2_4084-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT | ENSP00000388797.2:n.4084-2_4084-1insCACCATCGTGAACAACAAGAGCCAG... | |
| ENST00000455624.6:c.4243-2_4243-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT | ENSP00000399524.2:n.4243-2_4243-1insCACCATCGTGAACAACAAGAGCCAG... | |
| NM_000335.4:c.4243-2_4243-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT , LRG_289t2:c.4243-2_4243-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT | NP_000326.2:n.4243-2_4243-1insCACCATCGTGAACAACAAGAGCCAGTGTGAG... | |
| NM_001099404.1:c.4246-2_4246-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT , LRG_289t3:c.4246-2_4246-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT | NP_001092874.1:n.4246-2_4246-1insCACCATCGTGAACAACAAGAGCCAGTGT... | |
| NM_001099405.1:c.4246-708_4246-707insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT | NP_001092875.1:n.4246-708_4246-707insCACCATCGTGAACAACAAGAGCCA... | |
| NM_001160160.1:c.4243-2_4243-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT | NP_001153632.1:n.4243-2_4243-1insCACCATCGTGAACAACAAGAGCCAGTGT... | |
| NM_001160161.1:c.4084-2_4084-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT | NP_001153633.1:n.4084-2_4084-1insCACCATCGTGAACAACAAGAGCCAGTGT... | |
| NM_198056.2:c.4246-2_4246-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT , LRG_289t1:c.4246-2_4246-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT | NP_932173.1:n.4246-2_4246-1insCACCATCGTGAACAACAAGAGCCAGTGTGAG... | |
| XM_006713282.2:c.4246-2_4246-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT | XP_006713345.1:n.4246-2_4246-1insCACCATCGTGAACAACAAGAGCCAGTGT... | |
| XM_011533991.1:c.4243-2_4243-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT | XP_011532293.1:n.4243-2_4243-1insCACCATCGTGAACAACAAGAGCCAGTGT... | |
| XM_011533992.1:c.4117-2_4117-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT | XP_011532294.1:n.4117-2_4117-1insCACCATCGTGAACAACAAGAGCCAGTGT... | |
| NM_001354701.1:c.4243-708_4243-707insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT | NP_001341630.1:n.4243-708_4243-707insCACCATCGTGAACAACAAGAGCCA... | |
| XM_011533991.2:c.4243-2_4243-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT | XP_011532293.1:n.4243-2_4243-1insCACCATCGTGAACAACAAGAGCCAGTGT... | |
| XM_017007017.1:c.4084-2_4084-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT | XP_016862506.1:n.4084-2_4084-1insCACCATCGTGAACAACAAGAGCCAGTGT... | |
| NM_000335.5:c.4243-2_4243-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT MANE Select | NP_000326.2:n.4243-2_4243-1insCACCATCGTGAACAACAAGAGCCAGTGTGAG... | |
| NM_001160160.2:c.4243-2_4243-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT | NP_001153632.1:n.4243-2_4243-1insCACCATCGTGAACAACAAGAGCCAGTGT... | |
| NM_001354701.2:c.4243-708_4243-707insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT | NP_001341630.1:n.4243-708_4243-707insCACCATCGTGAACAACAAGAGCCA... | |
| NM_001099404.2:c.4246-2_4246-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT MANE Plus Clinical | NP_001092874.1:n.4246-2_4246-1insCACCATCGTGAACAACAAGAGCCAGTGT... | |
| NM_001099405.2:c.4246-708_4246-707insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT | NP_001092875.1:n.4246-708_4246-707insCACCATCGTGAACAACAAGAGCCA... | |
| NM_001160161.2:c.4084-2_4084-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT | NP_001153633.1:n.4084-2_4084-1insCACCATCGTGAACAACAAGAGCCAGTGT... | |
| NM_198056.3:c.4246-2_4246-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT | NP_932173.1:n.4246-2_4246-1insCACCATCGTGAACAACAAGAGCCAGTGTGAG... |