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
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201284883G>C , CM000664.2:g.201284883G>C | GRCh38 |
| NC_000002.11:g.202149606G>C , CM000664.1:g.202149606G>C | GRCh37 |
| NC_000002.10:g.201857851G>C | NCBI36 |
| NG_007497.1:g.56426G>C , LRG_34:g.56426G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413726.6:c.870G>C | ENSP00000397528.2:p.Glu290Asp | |
| ENST00000440732.6:c.870G>C | ENSP00000396869.2:p.Glu290Asp | |
| ENST00000444430.3:c.618G>C | ENSP00000394434.3:p.Glu206Asp | |
| ENST00000450491.6:c.516G>C | ENSP00000391709.2:p.Glu172Asp | |
| ENST00000696067.1:c.870G>C | ENSP00000512369.1:p.Glu290Asp | |
| ENST00000696068.1:c.*97G>C | ENSP00000512370.1:n.*97G>C | |
| ENST00000696069.1:c.825G>C | ENSP00000512371.1:p.Glu275Asp | |
| ENST00000696085.1:c.1002G>C | ENSP00000512381.1:p.Glu334Asp | |
| ENST00000696086.1:n.144G>C | ||
| ENST00000696087.1:c.825G>C | ENSP00000512382.1:p.Glu275Asp | |
| ENST00000673742.1:c.870G>C MANE Select | ENSP00000501268.1:p.Glu290Asp | |
| ENST00000264274.13:c.618G>C | ENSP00000264274.9:p.Glu206Asp | |
| ENST00000264275.9:c.921G>C | ENSP00000264275.5:p.Glu307Asp | |
| ENST00000323492.11:c.825G>C | ENSP00000325722.7:p.Glu275Asp | |
| ENST00000339403.6:n.1091G>C | ||
| ENST00000358485.8:c.1047G>C | ENSP00000351273.4:p.Glu349Asp | |
| ENST00000392263.6:c.825G>C | ENSP00000376091.2:p.Glu275Asp | |
| ENST00000432109.6:c.870G>C | ENSP00000412523.2:p.Glu290Asp | |
| ENST00000444430.2:c.207G>C | ENSP00000394434.2:p.Glu69Asp | |
| NM_001080124.1:c.825G>C | NP_001073593.1:p.Glu275Asp | |
| NM_001080125.1:c.1047G>C | NP_001073594.1:p.Glu349Asp | |
| NM_001228.4:c.921G>C , LRG_34t1:c.921G>C | NP_001219.2:p.Glu307Asp | |
| NM_033355.3:c.870G>C , LRG_34t2:c.870G>C | NP_203519.1:p.Glu290Asp | |
| NM_033356.3:c.825G>C | NP_203520.1:p.Glu275Asp | |
| NR_111983.1:n.1384G>C | ||
| XM_005246885.1:c.1002G>C | XP_005246942.1:p.Glu334Asp | |
| XM_005246886.1:c.870G>C | XP_005246943.1:p.Glu290Asp | |
| XM_005246887.1:c.870G>C | XP_005246944.1:p.Glu290Asp | |
| XM_005246888.1:c.870G>C | XP_005246945.1:p.Glu290Asp | |
| XM_005246889.1:c.870G>C | XP_005246946.1:p.Glu290Asp | |
| XM_005246890.2:c.870G>C | XP_005246947.1:p.Glu290Asp | |
| XM_005246891.3:c.870G>C | XP_005246948.1:p.Glu290Asp | |
| XM_005246892.1:c.825G>C | XP_005246949.1:p.Glu275Asp | |
| XM_005246893.2:c.*97G>C | XP_005246950.1:n.*97G>C | |
| XM_005246894.2:c.273G>C | XP_005246951.1:p.Glu91Asp | |
| XM_005246895.2:c.*97G>C | XP_005246952.1:n.*97G>C | |
| XM_006712789.1:c.870G>C | XP_006712852.1:p.Glu290Asp | |
| XM_006712790.2:c.870G>C | XP_006712853.1:p.Glu290Asp | |
| XM_006712791.1:c.795G>C | XP_006712854.1:p.Glu265Asp | |
| XM_006712793.2:c.*97G>C | XP_006712856.1:n.*97G>C | |
| XM_011511969.1:c.435G>C | XP_011510271.1:p.Glu145Asp | |
| XR_923035.1:n.1139G>C | ||
| XM_005246885.2:c.1002G>C | XP_005246942.1:p.Glu334Asp | |
| XM_005246886.2:c.870G>C | XP_005246943.1:p.Glu290Asp | |
| XM_005246887.2:c.870G>C | XP_005246944.1:p.Glu290Asp | |
| XM_005246888.2:c.870G>C | XP_005246945.1:p.Glu290Asp | |
| XM_005246889.2:c.870G>C | XP_005246946.1:p.Glu290Asp | |
| XM_005246890.4:c.870G>C | XP_005246947.1:p.Glu290Asp | |
| XM_005246891.5:c.870G>C | XP_005246948.1:p.Glu290Asp | |
| XM_005246892.2:c.825G>C | XP_005246949.1:p.Glu275Asp | |
| XM_005246893.3:c.*97G>C | XP_005246950.1:n.*97G>C | |
| XM_005246894.4:c.273G>C | XP_005246951.1:p.Glu91Asp | |
| XM_005246895.3:c.*97G>C | XP_005246952.1:n.*97G>C | |
| XM_006712789.2:c.870G>C | XP_006712852.1:p.Glu290Asp | |
| XM_006712790.4:c.870G>C | XP_006712853.1:p.Glu290Asp | |
| XM_006712793.3:c.*97G>C | XP_006712856.1:n.*97G>C | |
| XM_011511969.2:c.435G>C | XP_011510271.1:p.Glu145Asp | |
| XR_001738971.1:n.1217G>C | ||
| NM_001080124.2:c.825G>C | NP_001073593.1:p.Glu275Asp | |
| NM_001080125.2:c.1047G>C | NP_001073594.1:p.Glu349Asp | |
| NM_001372051.1:c.870G>C MANE Select | NP_001358980.1:p.Glu290Asp | |
| NM_033356.4:c.825G>C | NP_203520.1:p.Glu275Asp | |
| NR_111983.2:n.1380G>C | ||
| NM_001400642.1:c.1002G>C | NP_001387571.1:p.Glu334Asp | |
| NM_001400645.1:c.903G>C | NP_001387574.1:p.Glu301Asp | |
| NM_001400648.1:c.870G>C | NP_001387577.1:p.Glu290Asp | |
| NM_001400651.1:c.870G>C | NP_001387580.1:p.Glu290Asp | |
| NM_001400653.1:c.870G>C | NP_001387582.1:p.Glu290Asp | |
| NM_001400654.1:c.870G>C | NP_001387583.1:p.Glu290Asp | |
| NM_001400655.1:c.870G>C | NP_001387584.1:p.Glu290Asp | |
| NM_001400656.1:c.870G>C | NP_001387585.1:p.Glu290Asp | |
| NM_001400657.1:c.870G>C | NP_001387586.1:p.Glu290Asp | |
| NM_001400658.1:c.825G>C | NP_001387587.1:p.Glu275Asp | |
| NM_001400659.1:c.825G>C | NP_001387588.1:p.Glu275Asp | |
| NM_001400660.1:c.825G>C | NP_001387589.1:p.Glu275Asp | |
| NM_001400661.1:c.825G>C | NP_001387590.1:p.Glu275Asp | |
| NM_001400662.1:c.825G>C | NP_001387591.1:p.Glu275Asp | |
| NM_001400663.1:c.825G>C | NP_001387592.1:p.Glu275Asp | |
| NM_001400664.1:c.801G>C | NP_001387593.1:p.Glu267Asp | |
| NM_001400665.1:c.795G>C | NP_001387594.1:p.Glu265Asp | |
| NM_001400666.1:c.663G>C | NP_001387595.1:p.Glu221Asp | |
| NM_001400667.1:c.618G>C | NP_001387596.1:p.Glu206Asp | |
| NM_001400668.1:c.618G>C | NP_001387597.1:p.Glu206Asp | |
| NM_001400669.1:c.561G>C | NP_001387598.1:p.Glu187Asp | |
| NM_001400670.1:c.803-380G>C | NP_001387599.1:n.803-380G>C | |
| NM_001400671.1:c.273G>C | NP_001387600.1:p.Glu91Asp | |
| NM_001400672.1:c.273G>C | NP_001387601.1:p.Glu91Asp | |
| NM_001400673.1:c.273G>C | NP_001387602.1:p.Glu91Asp | |
| NM_001400674.1:c.255G>C | NP_001387603.1:p.Glu85Asp | |
| NM_001400675.1:c.228G>C | NP_001387604.1:p.Glu76Asp | |
| NM_001400676.1:c.228G>C | NP_001387605.1:p.Glu76Asp | |
| NM_001400677.1:c.228G>C | NP_001387606.1:p.Glu76Asp | |
| NM_001400678.1:c.228G>C | NP_001387607.1:p.Glu76Asp | |
| NM_001400680.1:c.255G>C | NP_001387609.1:p.Glu85Asp | |
| NM_001400750.1:c.273G>C | NP_001387679.1:p.Glu91Asp | |
| NM_001400751.1:c.228G>C | NP_001387680.1:p.Glu76Asp | |
| NR_174564.1:n.959G>C | ||
| NR_174565.1:n.1089G>C | ||
| NR_174581.1:n.1115G>C | ||
| NR_174583.1:n.1221G>C | ||
| NR_174584.1:n.1134G>C | ||
| NR_174585.1:n.1152G>C | ||
| NR_174586.1:n.1126G>C | ||
| NR_174588.1:n.1289G>C | ||
| NR_174589.1:n.1084G>C | ||
| NR_174590.1:n.1176G>C | ||
| NR_174591.1:n.1107G>C | ||
| NR_174592.1:n.1452G>C | ||
| NR_174593.1:n.1250G>C | ||
| NR_174594.1:n.1293G>C | ||
| NR_174595.1:n.1208G>C | ||
| NR_174596.1:n.1045G>C | ||
| NR_174598.1:n.1403G>C | ||
| NR_174599.1:n.787G>C | ||
| NR_174600.1:n.1315G>C | ||
| NR_174601.1:n.1240G>C | ||
| NR_174602.1:n.1110G>C |