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_000003.12:g.37020440_37020441delinsTC , CM000665.2:g.37020440_37020441delinsTC | GRCh38 |
| NC_000003.11:g.37061931_37061932delinsTC , CM000665.1:g.37061931_37061932delinsTC | GRCh37 |
| NC_000003.10:g.37036935_37036936delinsTC | NCBI36 |
| NG_007109.2:g.32091_32092delinsTC , LRG_216:g.32091_32092delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413740.2:c.1015_1016delinsTC | ENSP00000416476.2:p.Ser339= | |
| ENST00000429117.6:c.721_722delinsTC | ENSP00000407019.2:p.Ser241= | |
| ENST00000450420.6:c.1015_1016delinsTC | ENSP00000393006.2:p.Ser339= | |
| ENST00000456676.7:c.1015_1016delinsTC | ENSP00000416687.3:p.Ser339= | |
| ENST00000458009.6:c.884+2841_884+2842delinsTC | ENSP00000411066.2:n.884+2841_884+2842delinsTC | |
| ENST00000492474.6:c.292_293delinsTC | ENSP00000518393.1:p.Ser98= | |
| ENST00000616768.6:c.1015_1016delinsTC | ENSP00000480669.3:p.Ser339= | |
| ENST00000673673.2:c.1015_1016delinsTC | ENSP00000500979.2:p.Ser339= | |
| ENST00000231790.8:c.1015_1016delinsTC MANE Select | ENSP00000231790.3:p.Ser339= | |
| ENST00000413212.2:c.68-5197_68-5196delinsTC | ENSP00000400844.2:n.68-5197_68-5196delinsTC | |
| ENST00000432299.6:c.*871-5197_*871-5196delinsTC | ENSP00000416783.1:n.*871-5197_*871-5196delinsTC | |
| ENST00000441265.6:c.292_293delinsTC | ENSP00000398392.2:p.Ser98= | |
| ENST00000442249.6:n.823_824delinsTC | ||
| ENST00000447829.6:c.*126_*127delinsTC | ENSP00000399329.2:n.*126_*127delinsTC | |
| ENST00000539477.6:c.292_293delinsTC | ENSP00000443665.1:p.Ser98= | |
| ENST00000616768.5:c.52_53delinsTC | ENSP00000480669.2:p.Ser18= | |
| ENST00000673673.1:c.968_969delinsTC | ||
| ENST00000673713.1:n.1046_1047delinsTC | ||
| ENST00000673715.1:c.1015_1016delinsTC | ENSP00000501301.1:p.Ser339= | |
| ENST00000673889.1:n.397_398delinsTC | ||
| ENST00000673897.1:c.*807_*808delinsTC | ENSP00000501109.1:n.*807_*808delinsTC | |
| ENST00000673899.1:c.677+8341_678-8343delinsTC | ENSP00000501030.1:n.677+8341_678-8343delinsTC | |
| ENST00000673947.1:c.*1155_*1156delinsTC | ENSP00000501304.1:n.*1155_*1156delinsTC | |
| ENST00000673972.1:c.*893_*894delinsTC | ENSP00000501281.1:n.*893_*894delinsTC | |
| ENST00000673990.1:n.906_907delinsTC | ||
| ENST00000674019.1:c.292_293delinsTC | ENSP00000501081.1:p.Ser98= | |
| ENST00000674107.1:n.863_864delinsTC | ||
| ENST00000674111.1:c.1015_1016delinsTC | ENSP00000501162.1:p.Ser339= | |
| ENST00000231790.6:c.1015_1016delinsTC | ENSP00000231790.2:p.Ser339= | |
| ENST00000413212.1:c.114-5197_114-5196delinsTC | ||
| ENST00000435176.5:c.721_722delinsTC | ENSP00000402564.1:p.Ser241= | |
| ENST00000441265.5:c.292_293delinsTC | ENSP00000398392.1:p.Ser98= | |
| ENST00000447829.5:c.302_303delinsTC | ||
| ENST00000455445.6:c.292_293delinsTC | ENSP00000398272.2:p.Ser98= | |
| ENST00000456676.6:c.990_991delinsTC | ||
| ENST00000458009.5:c.225+2841_225+2842delinsTC | ||
| ENST00000458205.6:c.292_293delinsTC | ENSP00000402667.2:p.Ser98= | |
| ENST00000536378.5:c.292_293delinsTC | ENSP00000444286.2:p.Ser98= | |
| ENST00000539477.5:c.292_293delinsTC | ENSP00000443665.1:p.Ser98= | |
| NM_000249.3:c.1015_1016delinsTC , LRG_216t1:c.1015_1016delinsTC | NP_000240.1:p.Ser339= | |
| NM_001167617.1:c.721_722delinsTC | NP_001161089.1:p.Ser241= | |
| NM_001167618.1:c.292_293delinsTC | NP_001161090.1:p.Ser98= | |
| NM_001167619.1:c.292_293delinsTC | NP_001161091.1:p.Ser98= | |
| NM_001258271.1:c.1015_1016delinsTC | NP_001245200.1:p.Ser339= | |
| NM_001258273.1:c.292_293delinsTC | NP_001245202.1:p.Ser98= | |
| NM_001258274.1:c.292_293delinsTC | NP_001245203.1:p.Ser98= | |
| XM_005265161.1:c.808_809delinsTC | XP_005265218.1:p.Ser270= | |
| XM_005265163.1:c.292_293delinsTC | XP_005265220.1:p.Ser98= | |
| XM_005265164.1:c.292_293delinsTC | XP_005265221.1:p.Ser98= | |
| XM_005265166.1:c.-9_-8delinsTC | XP_005265223.1:n.-9_-8delinsTC | |
| XM_011533727.1:c.-36-5197_-36-5196delinsTC | XP_011532029.1:n.-36-5197_-36-5196delinsTC | |
| NM_001167617.2:c.721_722delinsTC | NP_001161089.1:p.Ser241= | |
| NM_001167618.2:c.292_293delinsTC | NP_001161090.1:p.Ser98= | |
| NM_001167619.2:c.292_293delinsTC | NP_001161091.1:p.Ser98= | |
| NM_001258274.2:c.292_293delinsTC | NP_001245203.1:p.Ser98= | |
| NM_001354615.1:c.292_293delinsTC | NP_001341544.1:p.Ser98= | |
| NM_001354616.1:c.292_293delinsTC | NP_001341545.1:p.Ser98= | |
| NM_001354617.1:c.292_293delinsTC | NP_001341546.1:p.Ser98= | |
| NM_001354618.1:c.292_293delinsTC | NP_001341547.1:p.Ser98= | |
| NM_001354619.1:c.292_293delinsTC | NP_001341548.1:p.Ser98= | |
| NM_001354620.1:c.721_722delinsTC | NP_001341549.1:p.Ser241= | |
| NM_001354621.1:c.-9_-8delinsTC | NP_001341550.1:n.-9_-8delinsTC | |
| NM_001354622.1:c.-9_-8delinsTC | NP_001341551.1:n.-9_-8delinsTC | |
| NM_001354623.1:c.-9_-8delinsTC | NP_001341552.1:n.-9_-8delinsTC | |
| NM_001354624.1:c.-36-5197_-36-5196delinsTC | NP_001341553.1:n.-36-5197_-36-5196delinsTC | |
| NM_001354625.1:c.-36-5197_-36-5196delinsTC | NP_001341554.1:n.-36-5197_-36-5196delinsTC | |
| NM_001354626.1:c.-36-5197_-36-5196delinsTC | NP_001341555.1:n.-36-5197_-36-5196delinsTC | |
| NM_001354627.1:c.-36-5197_-36-5196delinsTC | NP_001341556.1:n.-36-5197_-36-5196delinsTC | |
| NM_001354628.1:c.1015_1016delinsTC | NP_001341557.1:p.Ser339= | |
| NM_001354629.1:c.916_917delinsTC | NP_001341558.1:p.Ser306= | |
| NM_001354630.1:c.1015_1016delinsTC | NP_001341559.1:p.Ser339= | |
| XM_005265161.2:c.808_809delinsTC | XP_005265218.1:p.Ser270= | |
| XM_017006450.2:c.-9_-8delinsTC | XP_016861939.1:n.-9_-8delinsTC | |
| NM_000249.4:c.1015_1016delinsTC MANE Select | NP_000240.1:p.Ser339= | |
| NM_001167617.3:c.721_722delinsTC | NP_001161089.1:p.Ser241= | |
| NM_001167618.3:c.292_293delinsTC | NP_001161090.1:p.Ser98= | |
| NM_001167619.3:c.292_293delinsTC | NP_001161091.1:p.Ser98= | |
| NM_001258271.2:c.1015_1016delinsTC | NP_001245200.1:p.Ser339= | |
| NM_001258273.2:c.292_293delinsTC | NP_001245202.1:p.Ser98= | |
| NM_001258274.3:c.292_293delinsTC | NP_001245203.1:p.Ser98= | |
| NM_001354615.2:c.292_293delinsTC | NP_001341544.1:p.Ser98= | |
| NM_001354616.2:c.292_293delinsTC | NP_001341545.1:p.Ser98= | |
| NM_001354617.2:c.292_293delinsTC | NP_001341546.1:p.Ser98= | |
| NM_001354618.2:c.292_293delinsTC | NP_001341547.1:p.Ser98= | |
| NM_001354619.2:c.292_293delinsTC | NP_001341548.1:p.Ser98= | |
| NM_001354620.2:c.721_722delinsTC | NP_001341549.1:p.Ser241= | |
| NM_001354621.2:c.-9_-8delinsTC | NP_001341550.1:n.-9_-8delinsTC | |
| NM_001354622.2:c.-9_-8delinsTC | NP_001341551.1:n.-9_-8delinsTC | |
| NM_001354623.2:c.-9_-8delinsTC | NP_001341552.1:n.-9_-8delinsTC | |
| NM_001354624.2:c.-36-5197_-36-5196delinsTC | NP_001341553.1:n.-36-5197_-36-5196delinsTC | |
| NM_001354625.2:c.-36-5197_-36-5196delinsTC | NP_001341554.1:n.-36-5197_-36-5196delinsTC | |
| NM_001354626.2:c.-36-5197_-36-5196delinsTC | NP_001341555.1:n.-36-5197_-36-5196delinsTC | |
| NM_001354627.2:c.-36-5197_-36-5196delinsTC | NP_001341556.1:n.-36-5197_-36-5196delinsTC | |
| NM_001354628.2:c.1015_1016delinsTC | NP_001341557.1:p.Ser339= | |
| NM_001354629.2:c.916_917delinsTC | NP_001341558.1:p.Ser306= | |
| NM_001354630.2:c.1015_1016delinsTC | NP_001341559.1:p.Ser339= |