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_000005.10:g.143282171_143282172insTTAGCTGAAATCATCACCAATCAGATACCAAAATATTC , CM000667.2:g.143282171_143282172insTTAGCTGAAATCATCACCAATCAGATACCAAAATATTC | GRCh38 |
| NC_000005.9:g.142661736_142661737insTTAGCTGAAATCATCACCAATCAGATACCAAAATATTC , CM000667.1:g.142661736_142661737insTTAGCTGAAATCATCACCAATCAGATACCAAAATATTC | GRCh37 |
| NC_000005.8:g.142641929_142641930insTTAGCTGAAATCATCACCAATCAGATACCAAAATATTC | NCBI36 |
| NG_009062.1:g.158341_158342insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394464.7:c.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA MANE Select | ENSP00000377977.2:n.2182-131_2182-130insGAATATTTTGGTATCTGATTG... | |
| ENST00000652686.1:c.2089-131_2089-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | ENSP00000498663.1:n.2089-131_2089-130insGAATATTTTGGTATCTGATTG... | |
| ENST00000231509.7:c.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | ENSP00000231509.3:n.2185-131_2185-130insGAATATTTTGGTATCTGATTG... | |
| ENST00000343796.6:c.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | ENSP00000343205.2:n.2182-131_2182-130insGAATATTTTGGTATCTGATTG... | |
| ENST00000394464.6:c.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | ENSP00000377977.2:n.2182-131_2182-130insGAATATTTTGGTATCTGATTG... | |
| ENST00000394466.6:c.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | ENSP00000377979.2:n.2185-131_2185-130insGAATATTTTGGTATCTGATTG... | |
| ENST00000415690.6:c.2181+396_2181+397insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | ENSP00000387672.2:n.2181+396_2181+397insGAATATTTTGGTATCTGATTG... | |
| ENST00000424646.6:c.2104-131_2104-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | ENSP00000405282.2:n.2104-131_2104-130insGAATATTTTGGTATCTGATTG... | |
| ENST00000503201.1:c.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | ENSP00000427672.1:n.2182-131_2182-130insGAATATTTTGGTATCTGATTG... | |
| ENST00000504572.5:c.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | ENSP00000422518.1:n.2185-131_2185-130insGAATATTTTGGTATCTGATTG... | |
| NM_000176.2:c.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_000167.1:n.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTGATG... | |
| NM_001018074.1:c.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001018084.1:n.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTG... | |
| NM_001018075.1:c.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001018085.1:n.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTG... | |
| NM_001018076.1:c.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001018086.1:n.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTG... | |
| NM_001018077.1:c.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001018087.1:n.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTG... | |
| NM_001020825.1:c.2181+396_2181+397insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001018661.1:n.2181+396_2181+397insGAATATTTTGGTATCTGATTGGTG... | |
| NM_001024094.1:c.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001019265.1:n.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTG... | |
| NM_001204258.1:c.2104-131_2104-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001191187.1:n.2104-131_2104-130insGAATATTTTGGTATCTGATTGGTG... | |
| NM_001204259.1:c.1927-131_1927-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001191188.1:n.1927-131_1927-130insGAATATTTTGGTATCTGATTGGTG... | |
| NM_001204260.1:c.1915-131_1915-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001191189.1:n.1915-131_1915-130insGAATATTTTGGTATCTGATTGGTG... | |
| NM_001204261.1:c.1891-131_1891-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001191190.1:n.1891-131_1891-130insGAATATTTTGGTATCTGATTGGTG... | |
| NM_001204262.1:c.1237-131_1237-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001191191.1:n.1237-131_1237-130insGAATATTTTGGTATCTGATTGGTG... | |
| NM_001204263.1:c.1192-131_1192-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001191192.1:n.1192-131_1192-130insGAATATTTTGGTATCTGATTGGTG... | |
| NM_001204264.1:c.1177-131_1177-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001191193.1:n.1177-131_1177-130insGAATATTTTGGTATCTGATTGGTG... | |
| XM_005268419.2:c.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | XP_005268476.1:n.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTG... | |
| XM_005268420.3:c.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | XP_005268477.1:n.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTG... | |
| XM_005268422.2:c.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | XP_005268479.1:n.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTG... | |
| XM_005268423.2:c.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | XP_005268480.1:n.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTG... | |
| XM_011537637.1:c.991-131_991-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | XP_011535939.1:n.991-131_991-130insGAATATTTTGGTATCTGATTGGTGAT... | |
| XR_944371.1:n.656-2528_656-2527insTTAGCTGAAATCATCACCAATCAGATACCAAAATATTC | ||
| NR_157096.1:n.1105-131_1105-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | ||
| XM_005268419.4:c.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | XP_005268476.1:n.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTG... | |
| XM_005268420.4:c.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | XP_005268477.1:n.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTG... | |
| XM_005268422.3:c.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | XP_005268479.1:n.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTG... | |
| XM_005268423.3:c.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | XP_005268480.1:n.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTG... | |
| XM_011537637.3:c.991-131_991-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | XP_011535939.1:n.991-131_991-130insGAATATTTTGGTATCTGATTGGTGAT... | |
| XM_017009397.1:c.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | XP_016864886.1:n.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTG... | |
| XM_017009398.1:c.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | XP_016864887.1:n.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTG... | |
| NM_000176.3:c.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA MANE Select | NP_000167.1:n.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTGATG... | |
| NM_001364180.1:c.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001351109.1:n.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTG... | |
| NM_001364181.1:c.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001351110.1:n.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTG... | |
| NM_001364182.1:c.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001351111.1:n.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTG... | |
| NM_001364183.1:c.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001351112.1:n.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTG... | |
| NM_001364184.1:c.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001351113.1:n.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTG... | |
| NM_001364185.1:c.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001351114.1:n.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTG... | |
| NM_001018076.2:c.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001018086.1:n.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTG... | |
| NM_001020825.2:c.2181+396_2181+397insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001018661.1:n.2181+396_2181+397insGAATATTTTGGTATCTGATTGGTG... | |
| NM_001024094.2:c.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001019265.1:n.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTG... | |
| NM_001204258.2:c.2104-131_2104-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001191187.1:n.2104-131_2104-130insGAATATTTTGGTATCTGATTGGTG... | |
| NM_001204259.2:c.1927-131_1927-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001191188.1:n.1927-131_1927-130insGAATATTTTGGTATCTGATTGGTG... | |
| NM_001204260.2:c.1915-131_1915-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001191189.1:n.1915-131_1915-130insGAATATTTTGGTATCTGATTGGTG... | |
| NM_001204261.2:c.1891-131_1891-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001191190.1:n.1891-131_1891-130insGAATATTTTGGTATCTGATTGGTG... | |
| NM_001204262.2:c.1237-131_1237-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001191191.1:n.1237-131_1237-130insGAATATTTTGGTATCTGATTGGTG... | |
| NM_001204263.2:c.1192-131_1192-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001191192.1:n.1192-131_1192-130insGAATATTTTGGTATCTGATTGGTG... | |
| NM_001204264.2:c.1177-131_1177-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001191193.1:n.1177-131_1177-130insGAATATTTTGGTATCTGATTGGTG... | |
| NM_001364180.2:c.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001351109.1:n.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTG... | |
| NM_001364181.2:c.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001351110.1:n.2182-131_2182-130insGAATATTTTGGTATCTGATTGGTG... | |
| NM_001364183.2:c.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001351112.1:n.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTG... | |
| NM_001364184.2:c.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA | NP_001351113.1:n.2185-131_2185-130insGAATATTTTGGTATCTGATTGGTG... | |
| NR_157096.2:n.1105-131_1105-130insGAATATTTTGGTATCTGATTGGTGATGATTTCAGCTAA |