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.2055393_2055394delinsCT , CM000678.2:g.2055393_2055394delinsCT | GRCh38 |
| NC_000016.9:g.2105394_2105395delinsCT , CM000678.1:g.2105394_2105395delinsCT | GRCh37 |
| NC_000016.8:g.2045395_2045396delinsCT | NCBI36 |
| NG_005895.1:g.11088_11089delinsCT , LRG_487:g.11088_11089delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.482-9_482-8delinsCT | ENSP00000455997.2:n.482-9_482-8delinsCT | |
| ENST00000642206.2:c.527-9_527-8delinsCT | ENSP00000495146.2:n.527-9_527-8delinsCT | |
| ENST00000642365.2:c.482-9_482-8delinsCT | ENSP00000495459.2:n.482-9_482-8delinsCT | |
| ENST00000644417.2:c.482-26_482-25delinsCT | ENSP00000493912.2:n.482-26_482-25delinsCT | |
| ENST00000646464.2:c.226-587_226-586delinsCT | ENSP00000496610.2:n.226-587_226-586delinsCT | |
| ENST00000219476.9:c.482-9_482-8delinsCT MANE Select | ENSP00000219476.3:n.482-9_482-8delinsCT | |
| ENST00000350773.9:c.482-9_482-8delinsCT | ENSP00000344383.4:n.482-9_482-8delinsCT | |
| ENST00000401874.7:c.482-9_482-8delinsCT | ENSP00000384468.2:n.482-9_482-8delinsCT | |
| ENST00000432909.3:c.256-9_256-8delinsCT | ||
| ENST00000461648.3:n.2387_2388delinsCT | ||
| ENST00000568454.6:c.515-9_515-8delinsCT | ENSP00000454487.1:n.515-9_515-8delinsCT | |
| ENST00000568692.2:n.1205-9_1205-8delinsCT | ||
| ENST00000642561.1:c.482-9_482-8delinsCT | ENSP00000495099.1:n.482-9_482-8delinsCT | |
| ENST00000642797.1:c.482-9_482-8delinsCT | ENSP00000493846.1:n.482-9_482-8delinsCT | |
| ENST00000642812.1:n.539-9_539-8delinsCT | ||
| ENST00000642936.1:c.482-9_482-8delinsCT | ENSP00000494514.1:n.482-9_482-8delinsCT | |
| ENST00000643088.1:c.482-9_482-8delinsCT | ENSP00000494747.1:n.482-9_482-8delinsCT | |
| ENST00000643120.1:n.523-26_523-25delinsCT | ||
| ENST00000643149.1:n.1435-9_1435-8delinsCT | ||
| ENST00000643298.1:c.482-9_482-8delinsCT | ENSP00000494393.1:n.482-9_482-8delinsCT | |
| ENST00000643745.1:c.482-9_482-8delinsCT | ENSP00000495948.1:n.482-9_482-8delinsCT | |
| ENST00000643946.1:c.482-9_482-8delinsCT | ENSP00000495927.1:n.482-9_482-8delinsCT | |
| ENST00000644043.1:c.482-9_482-8delinsCT | ENSP00000496262.1:n.482-9_482-8delinsCT | |
| ENST00000644135.1:c.482-9_482-8delinsCT | ENSP00000495644.1:n.482-9_482-8delinsCT | |
| ENST00000644222.1:n.569-9_569-8delinsCT | ||
| ENST00000644329.1:c.482-9_482-8delinsCT | ENSP00000496611.1:n.482-9_482-8delinsCT | |
| ENST00000644335.1:c.482-9_482-8delinsCT | ENSP00000496317.1:n.482-9_482-8delinsCT | |
| ENST00000644399.1:c.475-9_475-8delinsCT | ||
| ENST00000644417.1:c.197-26_197-25delinsCT | ENSP00000493912.1:n.197-26_197-25delinsCT | |
| ENST00000644665.1:n.599-9_599-8delinsCT | ||
| ENST00000645591.1:n.1453-9_1453-8delinsCT | ||
| ENST00000646388.1:c.482-9_482-8delinsCT | ENSP00000495921.1:n.482-9_482-8delinsCT | |
| ENST00000646823.1:n.870-9_870-8delinsCT | ||
| ENST00000647234.1:n.1200-26_1200-25delinsCT | ||
| ENST00000647242.1:n.1150-9_1150-8delinsCT | ||
| ENST00000219476.7:c.482-9_482-8delinsCT | ENSP00000219476.3:n.482-9_482-8delinsCT | |
| ENST00000350773.8:c.482-9_482-8delinsCT | ENSP00000344383.4:n.482-9_482-8delinsCT | |
| ENST00000382538.10:c.335-9_335-8delinsCT | ENSP00000371978.6:n.335-9_335-8delinsCT | |
| ENST00000401874.6:c.482-9_482-8delinsCT | ENSP00000384468.2:n.482-9_482-8delinsCT | |
| ENST00000432909.2:c.256-9_256-8delinsCT | ||
| ENST00000439117.6:c.226-803_226-802delinsCT | ENSP00000406980.2:n.226-803_226-802delinsCT | |
| ENST00000439673.6:c.371-9_371-8delinsCT | ENSP00000399232.2:n.371-9_371-8delinsCT | |
| ENST00000568454.5:c.515-9_515-8delinsCT | ENSP00000454487.1:n.515-9_515-8delinsCT | |
| ENST00000568692.1:n.146-9_146-8delinsCT | ||
| NM_000548.3:c.482-9_482-8delinsCT , LRG_487t1:c.482-9_482-8delinsCT | NP_000539.2:n.482-9_482-8delinsCT | |
| NM_001077183.1:c.482-9_482-8delinsCT | NP_001070651.1:n.482-9_482-8delinsCT | |
| NM_001114382.1:c.482-9_482-8delinsCT | NP_001107854.1:n.482-9_482-8delinsCT | |
| XM_005255529.3:c.482-9_482-8delinsCT | XP_005255586.2:n.482-9_482-8delinsCT | |
| XM_005255531.3:c.482-9_482-8delinsCT | XP_005255588.2:n.482-9_482-8delinsCT | |
| XM_011522636.1:c.482-9_482-8delinsCT | XP_011520938.1:n.482-9_482-8delinsCT | |
| XM_011522637.1:c.482-9_482-8delinsCT | XP_011520939.1:n.482-9_482-8delinsCT | |
| XM_011522638.1:c.371-9_371-8delinsCT | XP_011520940.1:n.371-9_371-8delinsCT | |
| XM_011522639.1:c.482-9_482-8delinsCT | XP_011520941.1:n.482-9_482-8delinsCT | |
| XM_011522640.1:c.482-9_482-8delinsCT | XP_011520942.1:n.482-9_482-8delinsCT | |
| XM_011522641.1:c.371-9_371-8delinsCT | XP_011520943.1:n.371-9_371-8delinsCT | |
| NM_000548.4:c.482-9_482-8delinsCT | NP_000539.2:n.482-9_482-8delinsCT | |
| NM_001077183.2:c.482-9_482-8delinsCT | NP_001070651.1:n.482-9_482-8delinsCT | |
| NM_001114382.2:c.482-9_482-8delinsCT | NP_001107854.1:n.482-9_482-8delinsCT | |
| NM_001318827.1:c.371-9_371-8delinsCT | NP_001305756.1:n.371-9_371-8delinsCT | |
| NM_001318829.1:c.335-9_335-8delinsCT | NP_001305758.1:n.335-9_335-8delinsCT | |
| NM_001318831.1:c.-1-803_-1-802delinsCT | NP_001305760.1:n.-1-803_-1-802delinsCT | |
| NM_001318832.1:c.515-9_515-8delinsCT | NP_001305761.1:n.515-9_515-8delinsCT | |
| NM_001363528.1:c.482-9_482-8delinsCT | NP_001350457.1:n.482-9_482-8delinsCT | |
| NM_021055.2:c.482-9_482-8delinsCT | NP_066399.2:n.482-9_482-8delinsCT | |
| XM_005255531.4:c.482-9_482-8delinsCT | XP_005255588.2:n.482-9_482-8delinsCT | |
| XM_011522636.2:c.482-9_482-8delinsCT | XP_011520938.1:n.482-9_482-8delinsCT | |
| XM_011522637.2:c.482-9_482-8delinsCT | XP_011520939.1:n.482-9_482-8delinsCT | |
| XM_011522638.2:c.644-9_644-8delinsCT | XP_011520940.2:n.644-9_644-8delinsCT | |
| XM_011522639.2:c.482-9_482-8delinsCT | XP_011520941.1:n.482-9_482-8delinsCT | |
| XM_011522640.2:c.482-9_482-8delinsCT | XP_011520942.1:n.482-9_482-8delinsCT | |
| XM_017023615.1:c.482-9_482-8delinsCT | XP_016879104.1:n.482-9_482-8delinsCT | |
| XM_017023616.1:c.482-9_482-8delinsCT | XP_016879105.1:n.482-9_482-8delinsCT | |
| XM_017023617.1:c.644-9_644-8delinsCT | XP_016879106.1:n.644-9_644-8delinsCT | |
| XM_017023618.1:c.-950-9_-950-8delinsCT | XP_016879107.1:n.-950-9_-950-8delinsCT | |
| XM_024450413.1:c.482-9_482-8delinsCT | XP_024306181.1:n.482-9_482-8delinsCT | |
| NM_000548.5:c.482-9_482-8delinsCT MANE Select | NP_000539.2:n.482-9_482-8delinsCT | |
| NM_001370404.1:c.482-9_482-8delinsCT | NP_001357333.1:n.482-9_482-8delinsCT | |
| NM_001370405.1:c.482-9_482-8delinsCT | NP_001357334.1:n.482-9_482-8delinsCT | |
| NM_001077183.3:c.482-9_482-8delinsCT | NP_001070651.1:n.482-9_482-8delinsCT | |
| NM_001114382.3:c.482-9_482-8delinsCT | NP_001107854.1:n.482-9_482-8delinsCT | |
| NM_001318827.2:c.371-9_371-8delinsCT | NP_001305756.1:n.371-9_371-8delinsCT | |
| NM_001318829.2:c.335-9_335-8delinsCT | NP_001305758.1:n.335-9_335-8delinsCT | |
| NM_001318831.2:c.-1-803_-1-802delinsCT | NP_001305760.1:n.-1-803_-1-802delinsCT | |
| NM_001318832.2:c.515-9_515-8delinsCT | NP_001305761.1:n.515-9_515-8delinsCT | |
| NM_001363528.2:c.482-9_482-8delinsCT | NP_001350457.1:n.482-9_482-8delinsCT | |
| NM_021055.3:c.482-9_482-8delinsCT | NP_066399.2:n.482-9_482-8delinsCT |