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:
241240
ClinVar RCV Id:
RCV000233917
dbSNP Id:
rs878855042
gnomAD v4:
17-80095281-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80095282dup , CM000679.2:g.80095282dup | GRCh38 |
| NC_000017.10:g.78069081dup , CM000679.1:g.78069081dup | GRCh37 |
| NC_000017.9:g.75683676dup | NCBI36 |
| NG_029761.1:g.63651dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397545.9:c.2852dup MANE Select | ENSP00000380679.4:p.Lys952GlufsTer? | |
| ENST00000397545.8:c.2852dup | ENSP00000380679.4:p.Lys952GlufsTer? | |
| ENST00000572253.5:n.3103dup | ||
| ENST00000574799.5:n.2389dup | ||
| ENST00000575431.1:n.496dup | ||
| NM_017950.3:c.2852dup | NP_060420.2:p.Lys952GlufsTer? | |
| XM_011524963.1:c.2762dup | XP_011523265.1:p.Lys922GlufsTer? | |
| XM_011524964.1:c.1673dup | XP_011523266.1:p.Lys559GlufsTer? | |
| XM_011524963.3:c.2762dup | XP_011523265.1:p.Lys922GlufsTer? | |
| XM_011524964.3:c.1673dup | XP_011523266.1:p.Lys559GlufsTer? | |
| XM_024450821.1:c.2762dup | XP_024306589.1:p.Lys922GlufsTer? | |
| XR_934495.2:n.2970dup | ||
| NM_017950.4:c.2852dup MANE Select | NP_060420.2:p.Lys952GlufsTer? |