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
ClinVar Variation Id:
1810698
ClinVar RCV Id:
RCV002510185
dbSNP Id:
rs312262811
PubMed:
PMID:20301367
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.13736528_13736532del , CM000685.2:g.13736528_13736532del | GRCh38 |
| NC_000023.10:g.13754647_13754651del , CM000685.1:g.13754647_13754651del | GRCh37 |
| NC_000023.9:g.13664568_13664572del | NCBI36 |
| NG_008872.1:g.6816_6820del | |
| NG_011555.1:g.3095_3099del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380567.6:c.162_166del | ENSP00000369941.2:p.Ser54ArgfsTer20 | |
| ENST00000398395.8:c.162_166del | ENSP00000381432.5:p.Ser54ArgfsTer20 | |
| ENST00000464463.6:n.445_449del | ||
| ENST00000485052.6:n.655_659del | ||
| ENST00000490265.6:n.134_138del | ||
| ENST00000682237.1:c.162_166del | ENSP00000507121.1:p.Ser54ArgfsTer20 | |
| ENST00000682562.1:c.162_166del | ENSP00000507874.1:p.Ser54ArgfsTer20 | |
| ENST00000682953.1:c.*225_*229del | ENSP00000507878.1:n.*225_*229del | |
| ENST00000683055.1:c.162_166del | ENSP00000508191.1:p.Ser54ArgfsTer20 | |
| ENST00000683284.1:c.112-128_112-124del | ENSP00000507837.1:n.112-128_112-124del | |
| ENST00000683427.1:c.162_166del | ENSP00000507290.1:p.Ser54ArgfsTer20 | |
| ENST00000683454.1:n.51_55del | ||
| ENST00000683655.1:c.162_166del | ENSP00000506770.1:p.Ser54ArgfsTer20 | |
| ENST00000683713.1:c.162_166del | ENSP00000507797.1:p.Ser54ArgfsTer20 | |
| ENST00000684401.1:n.553_557del | ||
| ENST00000684577.1:c.162_166del | ENSP00000507871.1:p.Ser54ArgfsTer20 | |
| ENST00000340096.11:c.162_166del MANE Select | ENSP00000344314.6:p.Ser54ArgfsTer20 | |
| ENST00000340096.10:c.162_166del | ENSP00000344314.6:p.Ser54ArgfsTer20 | |
| ENST00000380550.6:c.162_166del | ENSP00000369923.3:p.Ser54ArgfsTer20 | |
| ENST00000380567.5:c.-384_-380del | ENSP00000369941.1:n.-384_-380del | |
| ENST00000398395.7:c.-373_-369del | ENSP00000381432.4:n.-373_-369del | |
| ENST00000485052.5:n.666_670del | ||
| ENST00000490265.5:n.473_477del | ||
| NM_003611.2:c.162_166del | NP_003602.1:p.Ser54ArgfsTer20 | |
| XM_005274599.2:c.183_187del | XP_005274656.1:p.Ser61ArgfsTer20 | |
| XM_005274602.2:c.183_187del | XP_005274659.1:p.Ser61ArgfsTer20 | |
| XM_005274603.2:c.183_187del | XP_005274660.1:p.Ser61ArgfsTer20 | |
| XM_005274604.2:c.162_166del | XP_005274661.1:p.Ser54ArgfsTer20 | |
| XM_005274606.2:c.18_22del | XP_005274663.1:p.Ser6ArgfsTer20 | |
| XM_011545591.1:c.183_187del | XP_011543893.1:p.Ser61ArgfsTer20 | |
| XM_011545592.1:c.98-128_98-124del | XP_011543894.1:n.98-128_98-124del | |
| XM_011545593.1:c.183_187del | XP_011543895.1:p.Ser61ArgfsTer20 | |
| XM_011545594.1:c.-32-128_-32-124del | XP_011543896.1:n.-32-128_-32-124del | |
| XM_011545595.1:c.-32-128_-32-124del | XP_011543897.1:n.-32-128_-32-124del | |
| XM_011545596.1:c.183_187del | XP_011543898.1:p.Ser61ArgfsTer20 | |
| XM_011545597.1:c.-384_-380del | XP_011543899.1:n.-384_-380del | |
| XR_247288.2:n.522_526del | ||
| NM_001330209.1:c.162_166del | NP_001317138.1:p.Ser54ArgfsTer20 | |
| NM_001330210.1:c.-384_-380del | NP_001317139.1:n.-384_-380del | |
| XM_005274606.4:c.18_22del | XP_005274663.1:p.Ser6ArgfsTer20 | |
| XM_011545592.3:c.98-128_98-124del | XP_011543894.1:n.98-128_98-124del | |
| XM_011545594.3:c.-32-128_-32-124del | XP_011543896.1:n.-32-128_-32-124del | |
| XM_011545597.2:c.-384_-380del | XP_011543899.1:n.-384_-380del | |
| XM_017029909.1:c.-256-128_-256-124del | XP_016885398.1:n.-256-128_-256-124del | |
| XM_024452468.1:c.-1778_-1774del | XP_024308236.1:n.-1778_-1774del | |
| XM_024452469.1:c.-1778_-1774del | XP_024308237.1:n.-1778_-1774del | |
| XM_024452470.1:c.-1650-128_-1650-124del | XP_024308238.1:n.-1650-128_-1650-124del | |
| XM_024452471.1:c.-1778_-1774del | XP_024308239.1:n.-1778_-1774del | |
| NM_003611.3:c.162_166del MANE Select | NP_003602.1:p.Ser54ArgfsTer20 | |
| NM_001330209.2:c.162_166del | NP_001317138.1:p.Ser54ArgfsTer20 | |
| NM_001330210.2:c.-384_-380del | NP_001317139.1:n.-384_-380del |