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:
6805
ClinVar RCV Id:
RCV000007207
dbSNP Id:
rs796051867
PubMed:
PMID:19357117
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90676123_90676124del , CM000667.2:g.90676123_90676124del | GRCh38 |
| NC_000005.9:g.89971940_89971941del , CM000667.1:g.89971940_89971941del | GRCh37 |
| NC_000005.8:g.90007696_90007697del | NCBI36 |
| NG_007083.1:g.122324_122325del | |
| NG_007083.2:g.151780_151781del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.5357_5358del MANE Select | ENSP00000384582.2:p.Lys1786IlefsTer8 | |
| ENST00000639431.1:c.179_180del | ENSP00000491057.1:p.Lys60IlefsTer8 | |
| ENST00000639473.1:n.816_817del | ||
| ENST00000640403.1:c.2648_2649del | ENSP00000492531.1:p.Lys883IlefsTer8 | |
| ENST00000640779.1:c.172_173del | ||
| ENST00000405460.6:c.5357_5358del | ENSP00000384582.2:p.Lys1786IlefsTer8 | |
| ENST00000450321.2:n.692_693del | ||
| NM_032119.3:c.5357_5358del | NP_115495.3:p.Lys1786IlefsTer8 | |
| NR_003149.1:n.5453_5454del | ||
| XM_011543675.1:c.5357_5358del | XP_011541977.1:p.Lys1786IlefsTer8 | |
| XM_011543676.1:c.5357_5358del | XP_011541978.1:p.Lys1786IlefsTer8 | |
| XM_011543677.1:c.2660_2661del | XP_011541979.1:p.Lys887IlefsTer8 | |
| XM_011543678.1:c.5357_5358del | XP_011541980.1:p.Lys1786IlefsTer8 | |
| XM_011543679.1:c.5357_5358del | XP_011541981.1:p.Lys1786IlefsTer8 | |
| NM_032119.4:c.5357_5358del MANE Select | NP_115495.3:p.Lys1786IlefsTer8 | |
| XM_017009963.2:c.5357_5358del | XP_016865452.1:p.Lys1786IlefsTer8 | |
| XM_017009964.2:c.5357_5358del | XP_016865453.1:p.Lys1786IlefsTer8 | |
| XM_017009965.1:c.5354_5355del | XP_016865454.1:p.Lys1785IlefsTer8 | |
| XM_017009966.2:c.5357_5358del | XP_016865455.1:p.Lys1786IlefsTer8 | |
| XM_017009967.1:c.5261_5262del | XP_016865456.1:p.Lys1754IlefsTer8 | |
| XM_017009968.2:c.5357_5358del | XP_016865457.1:p.Lys1786IlefsTer8 | |
| XM_017009969.2:c.5357_5358del | XP_016865458.1:p.Lys1786IlefsTer8 | |
| XM_017009970.2:c.5357_5358del | XP_016865459.1:p.Lys1786IlefsTer8 | |
| XM_017009971.2:c.5357_5358del | XP_016865460.1:p.Lys1786IlefsTer8 | |
| XM_017009973.1:c.-1440_-1439del | XP_016865462.1:n.-1440_-1439del | |
| XM_017009974.2:c.5357_5358del | XP_016865463.1:p.Lys1786IlefsTer8 | |
| NR_003149.2:n.5456_5457del |