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_000016.10:g.28487741_28487742insAGCCGTAGAGACAGAGTTGCAGTCAAATCGTGATGAG , CM000678.2:g.28487741_28487742insAGCCGTAGAGACAGAGTTGCAGTCAAATCGTGATGAG | GRCh38 |
| NC_000016.9:g.28499062_28499063insAGCCGTAGAGACAGAGTTGCAGTCAAATCGTGATGAG , CM000678.1:g.28499062_28499063insAGCCGTAGAGACAGAGTTGCAGTCAAATCGTGATGAG | GRCh37 |
| NC_000016.8:g.28406563_28406564insAGCCGTAGAGACAGAGTTGCAGTCAAATCGTGATGAG | NCBI36 |
| NG_008654.2:g.9561_9562insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT , LRG_689:g.9561_9562insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.223-1_223insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000329171.9:n.223-1_223insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000355477.10:c.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000347660.7:n.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000357857.14:c.133-1_133insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000350523.9:n.133-1_133insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000359984.12:c.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000353073.9:n.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000360019.8:c.223-1_223insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000353116.3:n.223-1_223insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000395653.9:c.133-201_133-200insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000379014.5:n.133-201_133-200insCTCATCACGATTTGACTGCAACT... | |
| ENST00000561505.2:c.61-201_61-200insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000457615.2:n.61-201_61-200insCTCATCACGATTTGACTGCAACTCT... | |
| ENST00000561689.6:n.580-1_580insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ||
| ENST00000565316.6:c.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000456117.1:n.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000565778.6:c.223-201_223-200insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000458015.1:n.223-201_223-200insCTCATCACGATTTGACTGCAACT... | |
| ENST00000566083.6:n.753-1_753insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ||
| ENST00000566824.6:n.275-1_275insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ||
| ENST00000567495.6:c.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000456013.2:n.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000567963.6:c.133-1_133insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000455387.2:n.133-1_133insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000568076.6:n.422-1_422insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ||
| ENST00000568422.6:c.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000455549.2:n.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000568443.2:c.448-1_448insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000454899.2:n.448-1_448insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000568452.6:n.398-1_398insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ||
| ENST00000568472.6:n.468-201_468-200insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ||
| ENST00000568497.6:c.-293+1548_-293+1549insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000456414.2:n.-293+1548_-293+1549insCTCATCACGATTTGACTGC... | |
| ENST00000568558.6:c.295-201_295-200insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000455603.2:n.295-201_295-200insCTCATCACGATTTGACTGCAACT... | |
| ENST00000569430.7:c.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000454229.1:n.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000628023.3:c.222+1548_222+1549insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000486178.1:n.222+1548_222+1549insCTCATCACGATTTGACTGCAA... | |
| ENST00000635861.1:c.133-201_133-200insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000490034.1:n.133-201_133-200insCTCATCACGATTTGACTGCAACT... | |
| ENST00000635887.1:c.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000490709.1:n.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000635958.1:n.406-1_406insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ||
| ENST00000635973.1:c.126-201_126-200insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000490363.1:n.126-201_126-200insCTCATCACGATTTGACTGCAACT... | |
| ENST00000636017.1:c.295-201_295-200insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000490538.1:n.295-201_295-200insCTCATCACGATTTGACTGCAACT... | |
| ENST00000636078.1:n.337-1_337insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ||
| ENST00000636147.2:c.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT MANE Select | ENSP00000490105.1:n.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000636172.1:c.295-201_295-200insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000490505.1:n.295-201_295-200insCTCATCACGATTTGACTGCAACT... | |
| ENST00000636228.1:c.133-1_133insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000489627.1:n.133-1_133insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000636351.1:n.15-1_15insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ||
| ENST00000636503.1:c.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000489824.1:n.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000636766.1:c.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000489841.1:n.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000636839.1:n.447-1_447insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ||
| ENST00000636853.1:n.371-1_371insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ||
| ENST00000636866.1:c.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000490880.1:n.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000636977.1:n.1242_1243insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ||
| ENST00000637100.1:c.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000490394.1:n.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000637107.1:c.448-201_448-200insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000490248.1:n.448-201_448-200insCTCATCACGATTTGACTGCAACT... | |
| ENST00000637184.1:c.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000489952.1:n.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000637299.1:c.*104-1_*104insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000489823.1:n.*104-1_*104insCTCATCACGATTTGACTGCAACTCTGT... | |
| ENST00000637376.1:c.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000490758.1:n.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000637578.1:c.133-201_133-200insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000490206.1:n.133-201_133-200insCTCATCACGATTTGACTGCAACT... | |
| ENST00000637699.1:c.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000490049.1:n.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000637871.1:c.295-201_295-200insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000490670.1:n.295-201_295-200insCTCATCACGATTTGACTGCAACT... | |
| ENST00000637985.1:c.*234-1_*234insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000490932.1:n.*234-1_*234insCTCATCACGATTTGACTGCAACTCTGT... | |
| ENST00000333496.13:c.223-1_223insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000329171.9:n.223-1_223insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000355477.9:c.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000347660.6:n.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000357806.11:c.295-201_295-200insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000350457.7:n.295-201_295-200insCTCATCACGATTTGACTGCAACT... | |
| ENST00000357857.13:c.133-1_133insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000350523.9:n.133-1_133insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000359984.11:c.133-1_133insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000353073.8:n.133-1_133insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000360019.6:c.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000353116.2:n.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000395653.8:c.75-201_75-200insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000379014.4:n.75-201_75-200insCTCATCACGATTTGACTGCAACTCT... | |
| ENST00000561505.1:c.75-201_75-200insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000457615.1:n.75-201_75-200insCTCATCACGATTTGACTGCAACTCT... | |
| ENST00000561689.5:n.216-201_216-200insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ||
| ENST00000563874.5:n.1649-1_1649insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ||
| ENST00000564574.5:n.343-1_343insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ||
| ENST00000565047.1:n.186-201_186-200insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ||
| ENST00000565140.5:c.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000455342.1:n.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000565316.5:c.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000456117.1:n.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000565688.5:c.126-201_126-200insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000456122.1:n.126-201_126-200insCTCATCACGATTTGACTGCAACT... | |
| ENST00000565778.5:c.223-201_223-200insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000458015.1:n.223-201_223-200insCTCATCACGATTTGACTGCAACT... | |
| ENST00000566057.5:c.126-1_126insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000456693.1:n.126-1_126insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000566083.5:n.526-1_526insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ||
| ENST00000566824.5:n.424-201_424-200insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ||
| ENST00000567495.5:c.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000456013.1:n.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000567963.5:c.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000455387.1:n.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000568076.5:n.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ||
| ENST00000568224.4:c.61-1_61insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000454253.1:n.61-1_61insCTCATCACGATTTGACTGCAACTCTGTCTCT... | |
| ENST00000568422.5:c.75-1_75insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000455549.1:n.75-1_75insCTCATCACGATTTGACTGCAACTCTGTCTCT... | |
| ENST00000568443.1:c.448-1_448insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000454899.1:n.448-1_448insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000568452.5:n.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ||
| ENST00000568472.5:n.157+1548_157+1549insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ||
| ENST00000568497.5:c.222+1548_222+1549insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000456414.1:n.222+1548_222+1549insCTCATCACGATTTGACTGCAA... | |
| ENST00000568558.5:c.133-201_133-200insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000455603.1:n.133-201_133-200insCTCATCACGATTTGACTGCAACT... | |
| ENST00000569030.5:c.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000454680.1:n.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000569430.5:c.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000454229.1:n.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| ENST00000628023.2:c.222+1548_222+1549insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000486178.1:n.222+1548_222+1549insCTCATCACGATTTGACTGCAA... | |
| ENST00000631023.2:c.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | ENSP00000486616.1:n.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCT... | |
| NM_000086.2:c.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT , LRG_689t1:c.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | NP_000077.1:n.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGG... | |
| NM_001042432.1:c.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT , LRG_689t2:c.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | NP_001035897.1:n.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTA... | |
| NM_001286104.1:c.223-1_223insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | NP_001273033.1:n.223-1_223insCTCATCACGATTTGACTGCAACTCTGTCTCTA... | |
| NM_001286105.1:c.75-201_75-200insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | NP_001273034.1:n.75-201_75-200insCTCATCACGATTTGACTGCAACTCTGTC... | |
| NM_001286109.1:c.61-1_61insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | NP_001273038.1:n.61-1_61insCTCATCACGATTTGACTGCAACTCTGTCTCTACG... | |
| NM_001286110.1:c.133-1_133insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | NP_001273039.1:n.133-1_133insCTCATCACGATTTGACTGCAACTCTGTCTCTA... | |
| NM_001042432.2:c.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT MANE Select | NP_001035897.1:n.295-1_295insCTCATCACGATTTGACTGCAACTCTGTCTCTA... | |
| NM_001286104.2:c.223-1_223insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | NP_001273033.1:n.223-1_223insCTCATCACGATTTGACTGCAACTCTGTCTCTA... | |
| NM_001286105.2:c.75-201_75-200insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | NP_001273034.1:n.75-201_75-200insCTCATCACGATTTGACTGCAACTCTGTC... | |
| NM_001286109.2:c.61-1_61insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | NP_001273038.1:n.61-1_61insCTCATCACGATTTGACTGCAACTCTGTCTCTACG... | |
| NM_001286110.2:c.133-1_133insCTCATCACGATTTGACTGCAACTCTGTCTCTACGGCT | NP_001273039.1:n.133-1_133insCTCATCACGATTTGACTGCAACTCTGTCTCTA... |