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.12604071_12604072del , CM000665.2:g.12604071_12604072del | GRCh38 |
| NC_000003.11:g.12645570_12645571del , CM000665.1:g.12645570_12645571del | GRCh37 |
| NC_000003.10:g.12620570_12620571del | NCBI36 |
| NG_007467.1:g.65108_65109del , LRG_413:g.65108_65109del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*511+64_*511+65del | ENSP00000401088.1:n.*511+64_*511+65del | |
| ENST00000432427.3:c.154+64_154+65del | ||
| ENST00000465826.6:n.425+64_425+65del | ||
| ENST00000491290.2:n.1211+64_1211+65del | ||
| ENST00000684903.1:c.*511+64_*511+65del | ENSP00000508612.1:n.*511+64_*511+65del | |
| ENST00000685348.1:c.*511+64_*511+65del | ENSP00000510285.1:n.*511+64_*511+65del | |
| ENST00000685437.1:c.735+64_735+65del | ENSP00000508794.1:n.735+64_735+65del | |
| ENST00000685653.1:c.834+64_834+65del | ENSP00000509968.1:n.834+64_834+65del | |
| ENST00000685738.1:c.834+64_834+65del | ENSP00000510156.1:n.834+64_834+65del | |
| ENST00000686409.1:n.1434+64_1434+65del | ||
| ENST00000686455.1:n.1197+64_1197+65del | ||
| ENST00000686479.1:n.1205+64_1205+65del | ||
| ENST00000686762.1:c.834+64_834+65del | ENSP00000509767.1:n.834+64_834+65del | |
| ENST00000687257.1:n.1070+64_1070+65del | ||
| ENST00000687326.1:c.834+64_834+65del | ENSP00000509665.1:n.834+64_834+65del | |
| ENST00000687486.1:c.154+64_154+65del | ||
| ENST00000687505.1:n.952+64_952+65del | ||
| ENST00000687923.1:c.735+64_735+65del | ENSP00000510255.1:n.735+64_735+65del | |
| ENST00000687940.1:n.1211+64_1211+65del | ||
| ENST00000688269.1:n.1442+64_1442+65del | ||
| ENST00000688326.1:c.154+64_154+65del | ||
| ENST00000688444.1:n.1160+64_1160+65del | ||
| ENST00000688543.1:c.735+64_735+65del | ENSP00000509612.1:n.735+64_735+65del | |
| ENST00000688625.1:c.*412+64_*412+65del | ENSP00000509522.1:n.*412+64_*412+65del | |
| ENST00000688803.1:n.1065+64_1065+65del | ||
| ENST00000689097.1:c.*511+64_*511+65del | ENSP00000509756.1:n.*511+64_*511+65del | |
| ENST00000689389.1:c.834+64_834+65del | ENSP00000510213.1:n.834+64_834+65del | |
| ENST00000689418.1:c.*511+64_*511+65del | ENSP00000509467.1:n.*511+64_*511+65del | |
| ENST00000689481.1:c.*511+64_*511+65del | ENSP00000510248.1:n.*511+64_*511+65del | |
| ENST00000689540.1:n.984+64_984+65del | ||
| ENST00000689876.1:c.834+64_834+65del | ENSP00000508535.1:n.834+64_834+65del | |
| ENST00000689914.1:c.834+64_834+65del | ENSP00000509847.1:n.834+64_834+65del | |
| ENST00000690397.1:c.735+64_735+65del | ENSP00000508730.1:n.735+64_735+65del | |
| ENST00000690460.1:c.834+64_834+65del | ENSP00000509106.1:n.834+64_834+65del | |
| ENST00000690625.1:n.1137+64_1137+65del | ||
| ENST00000691268.1:c.262-3657_262-3656del | ||
| ENST00000691396.1:c.*627+64_*627+65del | ENSP00000510712.1:n.*627+64_*627+65del | |
| ENST00000691724.1:c.834+64_834+65del | ENSP00000509255.1:n.834+64_834+65del | |
| ENST00000691779.1:c.*412+64_*412+65del | ENSP00000508592.1:n.*412+64_*412+65del | |
| ENST00000691899.1:c.834+64_834+65del | ENSP00000508763.1:n.834+64_834+65del | |
| ENST00000692093.1:c.735+64_735+65del | ENSP00000509669.1:n.735+64_735+65del | |
| ENST00000692311.1:n.1207+64_1207+65del | ||
| ENST00000692558.1:n.1199+64_1199+65del | ||
| ENST00000692773.1:c.*511+64_*511+65del | ENSP00000509055.1:n.*511+64_*511+65del | |
| ENST00000692830.1:c.*579+64_*579+65del | ENSP00000509461.1:n.*579+64_*579+65del | |
| ENST00000693069.1:c.735+64_735+65del | ENSP00000510072.1:n.735+64_735+65del | |
| ENST00000693312.1:c.609+64_609+65del | ENSP00000508686.1:n.609+64_609+65del | |
| ENST00000693664.1:c.834+64_834+65del | ENSP00000509614.1:n.834+64_834+65del | |
| ENST00000693705.1:c.*511+64_*511+65del | ENSP00000510697.1:n.*511+64_*511+65del | |
| ENST00000251849.9:c.834+64_834+65del MANE Select | ENSP00000251849.4:n.834+64_834+65del | |
| ENST00000442415.7:c.834+64_834+65del | ENSP00000401888.2:n.834+64_834+65del | |
| ENST00000251849.8:c.834+64_834+65del | ENSP00000251849.4:n.834+64_834+65del | |
| ENST00000423275.5:c.*511+64_*511+65del | ENSP00000401088.1:n.*511+64_*511+65del | |
| ENST00000432427.2:c.471+64_471+65del | ENSP00000398591.2:n.471+64_471+65del | |
| ENST00000442415.6:c.834+64_834+65del | ENSP00000401888.2:n.834+64_834+65del | |
| ENST00000465826.5:n.78+64_78+65del | ||
| ENST00000491290.1:n.355+64_355+65del | ||
| NM_002880.3:c.834+64_834+65del , LRG_413t1:c.834+64_834+65del | NP_002871.1:n.834+64_834+65del | |
| XM_005265355.1:c.834+64_834+65del | XP_005265412.1:n.834+64_834+65del | |
| XM_005265357.1:c.735+64_735+65del | XP_005265414.1:n.735+64_735+65del | |
| XM_005265358.3:c.591+64_591+65del | XP_005265415.1:n.591+64_591+65del | |
| XM_005265359.3:c.492+64_492+65del | XP_005265416.1:n.492+64_492+65del | |
| XM_005265360.1:c.834+64_834+65del | XP_005265417.1:n.834+64_834+65del | |
| XM_011533974.1:c.834+64_834+65del | XP_011532276.1:n.834+64_834+65del | |
| XM_011533975.1:c.591+64_591+65del | XP_011532277.1:n.591+64_591+65del | |
| NM_001354689.1:c.834+64_834+65del | NP_001341618.1:n.834+64_834+65del | |
| NM_001354690.1:c.834+64_834+65del | NP_001341619.1:n.834+64_834+65del | |
| NM_001354691.1:c.591+64_591+65del | NP_001341620.1:n.591+64_591+65del | |
| NM_001354692.1:c.591+64_591+65del | NP_001341621.1:n.591+64_591+65del | |
| NM_001354693.1:c.735+64_735+65del | NP_001341622.1:n.735+64_735+65del | |
| NM_001354694.1:c.591+64_591+65del | NP_001341623.1:n.591+64_591+65del | |
| NM_001354695.1:c.492+64_492+65del | NP_001341624.1:n.492+64_492+65del | |
| NR_148940.1:n.1249+64_1249+65del | ||
| NR_148941.1:n.1249+64_1249+65del | ||
| NR_148942.1:n.1249+64_1249+65del | ||
| XM_011533974.3:c.834+64_834+65del | XP_011532276.1:n.834+64_834+65del | |
| XM_017006966.1:c.735+64_735+65del | XP_016862455.1:n.735+64_735+65del | |
| XR_001740227.1:n.1066+64_1066+65del | ||
| NM_001354689.3:c.834+64_834+65del | NP_001341618.1:n.834+64_834+65del | |
| NM_001354690.2:c.834+64_834+65del | NP_001341619.1:n.834+64_834+65del | |
| NM_001354691.2:c.591+64_591+65del | NP_001341620.1:n.591+64_591+65del | |
| NM_001354692.2:c.591+64_591+65del | NP_001341621.1:n.591+64_591+65del | |
| NM_001354693.2:c.735+64_735+65del | NP_001341622.1:n.735+64_735+65del | |
| NM_001354694.2:c.591+64_591+65del | NP_001341623.1:n.591+64_591+65del | |
| NM_001354695.2:c.492+64_492+65del | NP_001341624.1:n.492+64_492+65del | |
| NR_148940.2:n.1165+64_1165+65del | ||
| NR_148941.2:n.1165+64_1165+65del | ||
| NR_148942.2:n.1165+64_1165+65del | ||
| NM_001354690.3:c.834+64_834+65del | NP_001341619.1:n.834+64_834+65del | |
| NM_001354691.3:c.591+64_591+65del | NP_001341620.1:n.591+64_591+65del | |
| NM_001354692.3:c.591+64_591+65del | NP_001341621.1:n.591+64_591+65del | |
| NM_001354693.3:c.735+64_735+65del | NP_001341622.1:n.735+64_735+65del | |
| NM_001354694.3:c.591+64_591+65del | NP_001341623.1:n.591+64_591+65del | |
| NM_001354695.3:c.492+64_492+65del | NP_001341624.1:n.492+64_492+65del | |
| NM_002880.4:c.834+64_834+65del MANE Select | NP_002871.1:n.834+64_834+65del | |
| NR_148940.3:n.1165+64_1165+65del | ||
| NR_148941.3:n.1165+64_1165+65del | ||
| NR_148942.3:n.1165+64_1165+65del |