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:
187880
ClinVar RCV Id:
RCV000167600
dbSNP Id:
rs786204016
gnomAD v4:
1-11796306-GTGA-G
PubMed:
PMID:25736335
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11796313_11796315del , CM000663.2:g.11796313_11796315del | GRCh38 |
| NC_000001.10:g.11856370_11856372del , CM000663.1:g.11856370_11856372del | GRCh37 |
| NC_000001.9:g.11778957_11778959del | NCBI36 |
| NG_013351.1:g.14795_14797del , LRG_726:g.14795_14797del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376486.3:c.677_679del | ENSP00000365669.3:p.Ile226del | |
| ENST00000376585.6:c.800_802del | ENSP00000365770.1:p.Ile267del | |
| ENST00000376590.9:c.677_679del MANE Select | ENSP00000365775.3:p.Ile226del | |
| ENST00000376592.6:c.677_679del | ENSP00000365777.1:p.Ile226del | |
| ENST00000423400.7:c.797_799del | ENSP00000398908.3:p.Ile266del | |
| ENST00000641407.1:c.677_679del | ENSP00000493098.1:p.Ile226del | |
| ENST00000641446.1:c.677_679del | ENSP00000493262.1:p.Ile226del | |
| ENST00000641721.1:n.644-961_644-959del | ||
| ENST00000641747.1:c.*189_*191del | ENSP00000493116.1:n.*189_*191del | |
| ENST00000641759.1:n.812_814del | ||
| ENST00000641805.1:n.960_962del | ||
| ENST00000641820.1:c.-59_-57del | ENSP00000492937.1:n.-59_-57del | |
| ENST00000376583.7:c.800_802del | ENSP00000365767.3:p.Ile267del | |
| ENST00000376585.5:c.800_802del | ENSP00000365770.1:p.Ile267del | |
| ENST00000376590.7:c.677_679del | ENSP00000365775.3:p.Ile226del | |
| ENST00000376592.5:c.677_679del | ENSP00000365777.1:p.Ile226del | |
| NM_005957.4:c.677_679del , LRG_726t1:c.677_679del | NP_005948.3:p.Ile226del | |
| XM_005263458.2:c.800_802del | XP_005263515.1:p.Ile267del | |
| XM_005263460.3:c.677_679del | XP_005263517.1:p.Ile226del | |
| XM_005263461.3:c.677_679del | XP_005263518.1:p.Ile226del | |
| XM_005263462.3:c.677_679del | XP_005263519.1:p.Ile226del | |
| XM_005263463.2:c.431_433del | XP_005263520.1:p.Ile144del | |
| XM_011541495.1:c.797_799del | XP_011539797.1:p.Ile266del | |
| XM_011541496.1:c.800_802del | XP_011539798.1:p.Ile267del | |
| NM_001330358.1:c.800_802del | NP_001317287.1:p.Ile267del | |
| XM_005263460.5:c.677_679del | XP_005263517.1:p.Ile226del | |
| XM_005263462.4:c.677_679del | XP_005263519.1:p.Ile226del | |
| XM_005263463.4:c.431_433del | XP_005263520.1:p.Ile144del | |
| XM_011541495.3:c.797_799del | XP_011539797.1:p.Ile266del | |
| XM_011541496.3:c.800_802del | XP_011539798.1:p.Ile267del | |
| XM_017001328.2:c.800_802del | XP_016856817.1:p.Ile267del | |
| XM_024447198.1:c.431_433del | XP_024302966.1:p.Ile144del | |
| XR_002956640.1:n.1544_1546del | ||
| NM_005957.5:c.677_679del MANE Select | NP_005948.3:p.Ile226del | |
| NM_001330358.2:c.800_802del | NP_001317287.1:p.Ile267del |