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
dbSNP Id:
rs1173276984
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12603999_12604003del , CM000665.2:g.12603999_12604003del | GRCh38 |
| NC_000003.11:g.12645498_12645502del , CM000665.1:g.12645498_12645502del | GRCh37 |
| NC_000003.10:g.12620498_12620502del | NCBI36 |
| NG_007467.1:g.65182_65186del , LRG_413:g.65182_65186del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*511+138_*511+142del | ENSP00000401088.1:n.*511+138_*511+142del | |
| ENST00000432427.3:c.154+138_154+142del | ||
| ENST00000465826.6:n.425+138_425+142del | ||
| ENST00000491290.2:n.1211+138_1211+142del | ||
| ENST00000684903.1:c.*511+138_*511+142del | ENSP00000508612.1:n.*511+138_*511+142del | |
| ENST00000685348.1:c.*511+138_*511+142del | ENSP00000510285.1:n.*511+138_*511+142del | |
| ENST00000685437.1:c.735+138_735+142del | ENSP00000508794.1:n.735+138_735+142del | |
| ENST00000685653.1:c.834+138_834+142del | ENSP00000509968.1:n.834+138_834+142del | |
| ENST00000685738.1:c.834+138_834+142del | ENSP00000510156.1:n.834+138_834+142del | |
| ENST00000686409.1:n.1434+138_1434+142del | ||
| ENST00000686455.1:n.1197+138_1197+142del | ||
| ENST00000686479.1:n.1205+138_1205+142del | ||
| ENST00000686762.1:c.834+138_834+142del | ENSP00000509767.1:n.834+138_834+142del | |
| ENST00000687257.1:n.1070+138_1070+142del | ||
| ENST00000687326.1:c.834+138_834+142del | ENSP00000509665.1:n.834+138_834+142del | |
| ENST00000687486.1:c.154+138_154+142del | ||
| ENST00000687505.1:n.952+138_952+142del | ||
| ENST00000687923.1:c.735+138_735+142del | ENSP00000510255.1:n.735+138_735+142del | |
| ENST00000687940.1:n.1211+138_1211+142del | ||
| ENST00000688269.1:n.1442+138_1442+142del | ||
| ENST00000688326.1:c.154+138_154+142del | ||
| ENST00000688444.1:n.1160+138_1160+142del | ||
| ENST00000688543.1:c.735+138_735+142del | ENSP00000509612.1:n.735+138_735+142del | |
| ENST00000688625.1:c.*412+138_*412+142del | ENSP00000509522.1:n.*412+138_*412+142del | |
| ENST00000688803.1:n.1065+138_1065+142del | ||
| ENST00000689097.1:c.*511+138_*511+142del | ENSP00000509756.1:n.*511+138_*511+142del | |
| ENST00000689389.1:c.834+138_834+142del | ENSP00000510213.1:n.834+138_834+142del | |
| ENST00000689418.1:c.*511+138_*511+142del | ENSP00000509467.1:n.*511+138_*511+142del | |
| ENST00000689481.1:c.*511+138_*511+142del | ENSP00000510248.1:n.*511+138_*511+142del | |
| ENST00000689540.1:n.984+138_984+142del | ||
| ENST00000689876.1:c.834+138_834+142del | ENSP00000508535.1:n.834+138_834+142del | |
| ENST00000689914.1:c.834+138_834+142del | ENSP00000509847.1:n.834+138_834+142del | |
| ENST00000690397.1:c.735+138_735+142del | ENSP00000508730.1:n.735+138_735+142del | |
| ENST00000690460.1:c.834+138_834+142del | ENSP00000509106.1:n.834+138_834+142del | |
| ENST00000690625.1:n.1137+138_1137+142del | ||
| ENST00000691268.1:c.262-3583_262-3579del | ||
| ENST00000691396.1:c.*627+138_*627+142del | ENSP00000510712.1:n.*627+138_*627+142del | |
| ENST00000691724.1:c.834+138_834+142del | ENSP00000509255.1:n.834+138_834+142del | |
| ENST00000691779.1:c.*412+138_*412+142del | ENSP00000508592.1:n.*412+138_*412+142del | |
| ENST00000691899.1:c.834+138_834+142del | ENSP00000508763.1:n.834+138_834+142del | |
| ENST00000692093.1:c.735+138_735+142del | ENSP00000509669.1:n.735+138_735+142del | |
| ENST00000692311.1:n.1207+138_1207+142del | ||
| ENST00000692558.1:n.1199+138_1199+142del | ||
| ENST00000692773.1:c.*511+138_*511+142del | ENSP00000509055.1:n.*511+138_*511+142del | |
| ENST00000692830.1:c.*579+138_*579+142del | ENSP00000509461.1:n.*579+138_*579+142del | |
| ENST00000693069.1:c.735+138_735+142del | ENSP00000510072.1:n.735+138_735+142del | |
| ENST00000693312.1:c.609+138_609+142del | ENSP00000508686.1:n.609+138_609+142del | |
| ENST00000693664.1:c.834+138_834+142del | ENSP00000509614.1:n.834+138_834+142del | |
| ENST00000693705.1:c.*511+138_*511+142del | ENSP00000510697.1:n.*511+138_*511+142del | |
| ENST00000251849.9:c.834+138_834+142del MANE Select | ENSP00000251849.4:n.834+138_834+142del | |
| ENST00000442415.7:c.834+138_834+142del | ENSP00000401888.2:n.834+138_834+142del | |
| ENST00000251849.8:c.834+138_834+142del | ENSP00000251849.4:n.834+138_834+142del | |
| ENST00000423275.5:c.*511+138_*511+142del | ENSP00000401088.1:n.*511+138_*511+142del | |
| ENST00000432427.2:c.471+138_471+142del | ENSP00000398591.2:n.471+138_471+142del | |
| ENST00000442415.6:c.834+138_834+142del | ENSP00000401888.2:n.834+138_834+142del | |
| ENST00000465826.5:n.78+138_78+142del | ||
| ENST00000491290.1:n.355+138_355+142del | ||
| NM_002880.3:c.834+138_834+142del , LRG_413t1:c.834+138_834+142del | NP_002871.1:n.834+138_834+142del | |
| XM_005265355.1:c.834+138_834+142del | XP_005265412.1:n.834+138_834+142del | |
| XM_005265357.1:c.735+138_735+142del | XP_005265414.1:n.735+138_735+142del | |
| XM_005265358.3:c.591+138_591+142del | XP_005265415.1:n.591+138_591+142del | |
| XM_005265359.3:c.492+138_492+142del | XP_005265416.1:n.492+138_492+142del | |
| XM_005265360.1:c.834+138_834+142del | XP_005265417.1:n.834+138_834+142del | |
| XM_011533974.1:c.834+138_834+142del | XP_011532276.1:n.834+138_834+142del | |
| XM_011533975.1:c.591+138_591+142del | XP_011532277.1:n.591+138_591+142del | |
| NM_001354689.1:c.834+138_834+142del | NP_001341618.1:n.834+138_834+142del | |
| NM_001354690.1:c.834+138_834+142del | NP_001341619.1:n.834+138_834+142del | |
| NM_001354691.1:c.591+138_591+142del | NP_001341620.1:n.591+138_591+142del | |
| NM_001354692.1:c.591+138_591+142del | NP_001341621.1:n.591+138_591+142del | |
| NM_001354693.1:c.735+138_735+142del | NP_001341622.1:n.735+138_735+142del | |
| NM_001354694.1:c.591+138_591+142del | NP_001341623.1:n.591+138_591+142del | |
| NM_001354695.1:c.492+138_492+142del | NP_001341624.1:n.492+138_492+142del | |
| NR_148940.1:n.1249+138_1249+142del | ||
| NR_148941.1:n.1249+138_1249+142del | ||
| NR_148942.1:n.1249+138_1249+142del | ||
| XM_011533974.3:c.834+138_834+142del | XP_011532276.1:n.834+138_834+142del | |
| XM_017006966.1:c.735+138_735+142del | XP_016862455.1:n.735+138_735+142del | |
| XR_001740227.1:n.1066+138_1066+142del | ||
| NM_001354689.3:c.834+138_834+142del | NP_001341618.1:n.834+138_834+142del | |
| NM_001354690.2:c.834+138_834+142del | NP_001341619.1:n.834+138_834+142del | |
| NM_001354691.2:c.591+138_591+142del | NP_001341620.1:n.591+138_591+142del | |
| NM_001354692.2:c.591+138_591+142del | NP_001341621.1:n.591+138_591+142del | |
| NM_001354693.2:c.735+138_735+142del | NP_001341622.1:n.735+138_735+142del | |
| NM_001354694.2:c.591+138_591+142del | NP_001341623.1:n.591+138_591+142del | |
| NM_001354695.2:c.492+138_492+142del | NP_001341624.1:n.492+138_492+142del | |
| NR_148940.2:n.1165+138_1165+142del | ||
| NR_148941.2:n.1165+138_1165+142del | ||
| NR_148942.2:n.1165+138_1165+142del | ||
| NM_001354690.3:c.834+138_834+142del | NP_001341619.1:n.834+138_834+142del | |
| NM_001354691.3:c.591+138_591+142del | NP_001341620.1:n.591+138_591+142del | |
| NM_001354692.3:c.591+138_591+142del | NP_001341621.1:n.591+138_591+142del | |
| NM_001354693.3:c.735+138_735+142del | NP_001341622.1:n.735+138_735+142del | |
| NM_001354694.3:c.591+138_591+142del | NP_001341623.1:n.591+138_591+142del | |
| NM_001354695.3:c.492+138_492+142del | NP_001341624.1:n.492+138_492+142del | |
| NM_002880.4:c.834+138_834+142del MANE Select | NP_002871.1:n.834+138_834+142del | |
| NR_148940.3:n.1165+138_1165+142del | ||
| NR_148941.3:n.1165+138_1165+142del | ||
| NR_148942.3:n.1165+138_1165+142del |