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:
90803
ClinVar RCV Id:
RCV000076304
dbSNP Id:
rs63750806
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47475123_47475124dup , CM000664.2:g.47475123_47475124dup | GRCh38 |
| NC_000002.11:g.47702262_47702263dup , CM000664.1:g.47702262_47702263dup | GRCh37 |
| NC_000002.10:g.47555766_47555767dup | NCBI36 |
| NG_007110.2:g.77000_77001dup , LRG_218:g.77000_77001dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.1858_1859dup | ENSP00000495641.2:p.Arg621TyrfsTer15 | |
| ENST00000233146.7:c.1858_1859dup MANE Select | ENSP00000233146.2:p.Arg621TyrfsTer15 | |
| ENST00000543555.6:c.1660_1661dup | ENSP00000442697.1:p.Arg555TyrfsTer15 | |
| ENST00000644092.1:c.*158_*159dup | ENSP00000496351.1:n.*158_*159dup | |
| ENST00000645339.1:c.1858_1859dup | ENSP00000496441.1:p.Arg621TyrfsTer15 | |
| ENST00000645506.1:c.1858_1859dup | ENSP00000495455.1:p.Arg621TyrfsTer15 | |
| ENST00000646415.1:c.1858_1859dup | ENSP00000495543.1:p.Arg621TyrfsTer15 | |
| ENST00000233146.6:c.1858_1859dup | ENSP00000233146.2:p.Arg621TyrfsTer15 | |
| ENST00000406134.5:c.1858_1859dup | ENSP00000384199.1:p.Arg621TyrfsTer15 | |
| ENST00000543555.5:c.1660_1661dup | ENSP00000442697.1:p.Arg555TyrfsTer15 | |
| ENST00000610696.4:c.*254_*255dup | ENSP00000483159.1:n.*254_*255dup | |
| ENST00000613514.4:c.*398_*399dup | ENSP00000484137.1:n.*398_*399dup | |
| ENST00000617333.3:c.*624_*625dup | ENSP00000482468.1:n.*624_*625dup | |
| ENST00000617938.4:c.*830_*831dup | ENSP00000481158.1:n.*830_*831dup | |
| ENST00000621359.2:c.1858_1859dup | ENSP00000481416.1:p.Arg621TyrfsTer15 | |
| NM_000251.2:c.1858_1859dup , LRG_218t1:c.1858_1859dup | NP_000242.1:p.Arg621TyrfsTer15 | |
| NM_001258281.1:c.1660_1661dup | NP_001245210.1:p.Arg555TyrfsTer15 | |
| XM_005264332.2:c.1858_1859dup | XP_005264389.2:p.Arg621TyrfsTer15 | |
| XM_011532867.1:c.1858_1859dup | XP_011531169.1:p.Arg621TyrfsTer15 | |
| XR_939685.1:n.1930_1931dup | ||
| XM_005264332.4:c.1858_1859dup | XP_005264389.2:p.Arg621TyrfsTer15 | |
| XM_011532867.2:c.1858_1859dup | XP_011531169.1:p.Arg621TyrfsTer15 | |
| XR_001738747.2:n.1920_1921dup | ||
| XR_939685.2:n.1920_1921dup | ||
| NM_000251.3:c.1858_1859dup MANE Select | NP_000242.1:p.Arg621TyrfsTer15 |