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:
180598
ClinVar RCV Id:
RCV000192037
dbSNP Id:
rs797044529
MyVariant Identifiers:
chr3:g.138664708_138664724dup17 (hg19)
chr3:g.138664707_138664708insGGCGGGGGTGCGGCCGG (hg19)
chr3:g.138945866_138945882dup17 (hg38)
chr3:g.138945865_138945866insGGCGGGGGTGCGGCCGG (hg38)
PubMed:
PMID:20301614
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945866_138945882dup , CM000665.2:g.138945866_138945882dup | GRCh38 |
| NC_000003.11:g.138664708_138664724dup , CM000665.1:g.138664708_138664724dup | GRCh37 |
| NC_000003.10:g.140147398_140147414dup | NCBI36 |
| NG_012454.1:g.6259_6275dup | |
| NG_029796.1:g.3633_3649dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.841_857dup MANE Select | ENSP00000497217.1:p.Pro287ArgfsTer? | |
| ENST00000330315.3:c.841_857dup | ENSP00000333188.3:p.Pro287ArgfsTer? | |
| NM_023067.3:c.841_857dup | NP_075555.1:p.Pro287ArgfsTer? | |
| NM_023067.4:c.841_857dup MANE Select | NP_075555.1:p.Pro287ArgfsTer? |