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_000016.10:g.2071821_2071822insAGGTCACGGGGTAG , CM000678.2:g.2071821_2071822insAGGTCACGGGGTAG | GRCh38 |
| NC_000016.9:g.2121822_2121823insAGGTCACGGGGTAG , CM000678.1:g.2121822_2121823insAGGTCACGGGGTAG | GRCh37 |
| NC_000016.8:g.2061823_2061824insAGGTCACGGGGTAG | NCBI36 |
| NG_005895.1:g.27516_27517insAGGTCACGGGGTAG , LRG_487:g.27516_27517insAGGTCACGGGGTAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*531_*532insAGGTCACGGGGTAG | ENSP00000455997.2:n.*531_*532insAGGTCACGGGGTAG | |
| ENST00000642206.2:c.2029_2030insAGGTCACGGGGTAG | ENSP00000495146.2:p.Pro677GlnfsTer5 | |
| ENST00000642365.2:c.1984_1985insAGGTCACGGGGTAG | ENSP00000495459.2:p.Pro662GlnfsTer5 | |
| ENST00000644417.2:c.*1421_*1422insAGGTCACGGGGTAG | ENSP00000493912.2:n.*1421_*1422insAGGTCACGGGGTAG | |
| ENST00000646464.2:c.*1589_*1590insAGGTCACGGGGTAG | ENSP00000496610.2:n.*1589_*1590insAGGTCACGGGGTAG | |
| ENST00000219476.9:c.1984_1985insAGGTCACGGGGTAG MANE Select | ENSP00000219476.3:p.Pro662GlnfsTer5 | |
| ENST00000350773.9:c.1984_1985insAGGTCACGGGGTAG | ENSP00000344383.4:p.Pro662GlnfsTer5 | |
| ENST00000401874.7:c.1984_1985insAGGTCACGGGGTAG | ENSP00000384468.2:p.Pro662GlnfsTer5 | |
| ENST00000563346.2:n.162_163insAGGTCACGGGGTAG | ||
| ENST00000568454.6:c.2017_2018insAGGTCACGGGGTAG | ENSP00000454487.1:p.Pro673GlnfsTer5 | |
| ENST00000642365.1:c.641_642insAGGTCACGGGGTAG | ||
| ENST00000642561.1:c.1984_1985insAGGTCACGGGGTAG | ENSP00000495099.1:p.Pro662GlnfsTer5 | |
| ENST00000642797.1:c.1984_1985insAGGTCACGGGGTAG | ENSP00000493846.1:p.Pro662GlnfsTer5 | |
| ENST00000642936.1:c.1984_1985insAGGTCACGGGGTAG | ENSP00000494514.1:p.Pro662GlnfsTer5 | |
| ENST00000643088.1:c.1984_1985insAGGTCACGGGGTAG | ENSP00000494747.1:p.Pro662GlnfsTer5 | |
| ENST00000643298.1:c.*1486_*1487insAGGTCACGGGGTAG | ENSP00000494393.1:n.*1486_*1487insAGGTCACGGGGTAG | |
| ENST00000643946.1:c.1984_1985insAGGTCACGGGGTAG | ENSP00000495927.1:p.Pro662GlnfsTer5 | |
| ENST00000644043.1:c.1984_1985insAGGTCACGGGGTAG | ENSP00000496262.1:p.Pro662GlnfsTer5 | |
| ENST00000644329.1:c.1984_1985insAGGTCACGGGGTAG | ENSP00000496611.1:p.Pro662GlnfsTer5 | |
| ENST00000644335.1:c.1984_1985insAGGTCACGGGGTAG | ENSP00000496317.1:p.Pro662GlnfsTer5 | |
| ENST00000644399.1:c.1977_1978insAGGTCACGGGGTAG | ||
| ENST00000644847.1:n.976_977insAGGTCACGGGGTAG | ||
| ENST00000645024.1:n.266_267insAGGTCACGGGGTAG | ||
| ENST00000645552.1:n.264_265insAGGTCACGGGGTAG | ||
| ENST00000646388.1:c.1984_1985insAGGTCACGGGGTAG | ENSP00000495921.1:p.Pro662GlnfsTer5 | |
| ENST00000646464.1:c.37_38insAGGTCACGGGGTAG | ENSP00000496610.1:p.Pro13GlnfsTer5 | |
| ENST00000646634.1:n.997_998insAGGTCACGGGGTAG | ||
| ENST00000219476.7:c.1984_1985insAGGTCACGGGGTAG | ENSP00000219476.3:p.Pro662GlnfsTer5 | |
| ENST00000350773.8:c.1984_1985insAGGTCACGGGGTAG | ENSP00000344383.4:p.Pro662GlnfsTer5 | |
| ENST00000382538.10:c.1837_1838insAGGTCACGGGGTAG | ENSP00000371978.6:p.Pro613GlnfsTer5 | |
| ENST00000401874.6:c.1984_1985insAGGTCACGGGGTAG | ENSP00000384468.2:p.Pro662GlnfsTer5 | |
| ENST00000439117.6:c.*1283_*1284insAGGTCACGGGGTAG | ENSP00000406980.2:n.*1283_*1284insAGGTCACGGGGTAG | |
| ENST00000439673.6:c.1873_1874insAGGTCACGGGGTAG | ENSP00000399232.2:p.Pro625GlnfsTer5 | |
| ENST00000488675.5:n.491_492insAGGTCACGGGGTAG | ||
| ENST00000563346.1:n.53_54insAGGTCACGGGGTAG | ||
| ENST00000568454.5:c.2017_2018insAGGTCACGGGGTAG | ENSP00000454487.1:p.Pro673GlnfsTer5 | |
| NM_000548.3:c.1984_1985insAGGTCACGGGGTAG , LRG_487t1:c.1984_1985insAGGTCACGGGGTAG | NP_000539.2:p.Pro662GlnfsTer5 | |
| NM_001077183.1:c.1984_1985insAGGTCACGGGGTAG | NP_001070651.1:p.Pro662GlnfsTer5 | |
| NM_001114382.1:c.1984_1985insAGGTCACGGGGTAG | NP_001107854.1:p.Pro662GlnfsTer5 | |
| XM_005255529.3:c.1984_1985insAGGTCACGGGGTAG | XP_005255586.2:p.Pro662GlnfsTer5 | |
| XM_005255531.3:c.1984_1985insAGGTCACGGGGTAG | XP_005255588.2:p.Pro662GlnfsTer5 | |
| XM_011522636.1:c.1984_1985insAGGTCACGGGGTAG | XP_011520938.1:p.Pro662GlnfsTer5 | |
| XM_011522637.1:c.1984_1985insAGGTCACGGGGTAG | XP_011520939.1:p.Pro662GlnfsTer5 | |
| XM_011522638.1:c.1873_1874insAGGTCACGGGGTAG | XP_011520940.1:p.Pro625GlnfsTer5 | |
| XM_011522639.1:c.1984_1985insAGGTCACGGGGTAG | XP_011520941.1:p.Pro662GlnfsTer5 | |
| XM_011522640.1:c.1984_1985insAGGTCACGGGGTAG | XP_011520942.1:p.Pro662GlnfsTer5 | |
| XM_011522641.1:c.1873_1874insAGGTCACGGGGTAG | XP_011520943.1:p.Pro625GlnfsTer5 | |
| NM_000548.4:c.1984_1985insAGGTCACGGGGTAG | NP_000539.2:p.Pro662GlnfsTer5 | |
| NM_001077183.2:c.1984_1985insAGGTCACGGGGTAG | NP_001070651.1:p.Pro662GlnfsTer5 | |
| NM_001114382.2:c.1984_1985insAGGTCACGGGGTAG | NP_001107854.1:p.Pro662GlnfsTer5 | |
| NM_001318827.1:c.1873_1874insAGGTCACGGGGTAG | NP_001305756.1:p.Pro625GlnfsTer5 | |
| NM_001318829.1:c.1837_1838insAGGTCACGGGGTAG | NP_001305758.1:p.Pro613GlnfsTer5 | |
| NM_001318831.1:c.1384_1385insAGGTCACGGGGTAG | NP_001305760.1:p.Pro462GlnfsTer5 | |
| NM_001318832.1:c.2017_2018insAGGTCACGGGGTAG | NP_001305761.1:p.Pro673GlnfsTer5 | |
| NM_001363528.1:c.1984_1985insAGGTCACGGGGTAG | NP_001350457.1:p.Pro662GlnfsTer5 | |
| NM_021055.2:c.1984_1985insAGGTCACGGGGTAG | NP_066399.2:p.Pro662GlnfsTer5 | |
| XM_005255531.4:c.1984_1985insAGGTCACGGGGTAG | XP_005255588.2:p.Pro662GlnfsTer5 | |
| XM_011522636.2:c.1984_1985insAGGTCACGGGGTAG | XP_011520938.1:p.Pro662GlnfsTer5 | |
| XM_011522637.2:c.1984_1985insAGGTCACGGGGTAG | XP_011520939.1:p.Pro662GlnfsTer5 | |
| XM_011522638.2:c.2146_2147insAGGTCACGGGGTAG | XP_011520940.2:p.Pro716GlnfsTer5 | |
| XM_011522639.2:c.1984_1985insAGGTCACGGGGTAG | XP_011520941.1:p.Pro662GlnfsTer5 | |
| XM_011522640.2:c.1984_1985insAGGTCACGGGGTAG | XP_011520942.1:p.Pro662GlnfsTer5 | |
| XM_017023615.1:c.1984_1985insAGGTCACGGGGTAG | XP_016879104.1:p.Pro662GlnfsTer5 | |
| XM_017023616.1:c.1984_1985insAGGTCACGGGGTAG | XP_016879105.1:p.Pro662GlnfsTer5 | |
| XM_017023617.1:c.2146_2147insAGGTCACGGGGTAG | XP_016879106.1:p.Pro716GlnfsTer5 | |
| XM_017023618.1:c.640_641insAGGTCACGGGGTAG | XP_016879107.1:p.Pro214GlnfsTer5 | |
| XM_024450413.1:c.1984_1985insAGGTCACGGGGTAG | XP_024306181.1:p.Pro662GlnfsTer5 | |
| NM_000548.5:c.1984_1985insAGGTCACGGGGTAG MANE Select | NP_000539.2:p.Pro662GlnfsTer5 | |
| NM_001370404.1:c.1984_1985insAGGTCACGGGGTAG | NP_001357333.1:p.Pro662GlnfsTer5 | |
| NM_001370405.1:c.1984_1985insAGGTCACGGGGTAG | NP_001357334.1:p.Pro662GlnfsTer5 | |
| NM_001077183.3:c.1984_1985insAGGTCACGGGGTAG | NP_001070651.1:p.Pro662GlnfsTer5 | |
| NM_001114382.3:c.1984_1985insAGGTCACGGGGTAG | NP_001107854.1:p.Pro662GlnfsTer5 | |
| NM_001318827.2:c.1873_1874insAGGTCACGGGGTAG | NP_001305756.1:p.Pro625GlnfsTer5 | |
| NM_001318829.2:c.1837_1838insAGGTCACGGGGTAG | NP_001305758.1:p.Pro613GlnfsTer5 | |
| NM_001318831.2:c.1384_1385insAGGTCACGGGGTAG | NP_001305760.1:p.Pro462GlnfsTer5 | |
| NM_001318832.2:c.2017_2018insAGGTCACGGGGTAG | NP_001305761.1:p.Pro673GlnfsTer5 | |
| NM_001363528.2:c.1984_1985insAGGTCACGGGGTAG | NP_001350457.1:p.Pro662GlnfsTer5 | |
| NM_021055.3:c.1984_1985insAGGTCACGGGGTAG | NP_066399.2:p.Pro662GlnfsTer5 |