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:
13998
dbSNP Id:
rs587776806
ExAC:
5:170837543 C / CTCTG
gnomAD v3:
5-171410539-C-CTCTG
gnomAD v4:
5-171410539-C-CTCTG
MyVariant Identifiers:
chr5:g.170837544_170837547dupTCTG (hg19)
chr5:g.170837547_170837548insTCTG (hg19)
chr5:g.170837543_170837544insTCTG (hg19)
chr5:g.171410540_171410543dupTCTG (hg38)
chr5:g.171410543_171410544insTCTG (hg38)
chr5:g.171410539_171410540insTCTG (hg38)
CIViC:
CA280199
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.171410540_171410543dup , CM000667.2:g.171410540_171410543dup | GRCh38 |
| NC_000005.9:g.170837544_170837547dup , CM000667.1:g.170837544_170837547dup | GRCh37 |
| NC_000005.8:g.170770149_170770152dup | NCBI36 |
| NG_016018.1:g.27837_27840dup , LRG_458:g.27837_27840dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296930.10:c.860_863dup MANE Select | ENSP00000296930.5:p.Trp288CysfsTer12 | |
| ENST00000518587.2:n.1054_1057dup | ||
| ENST00000521260.2:n.1238_1241dup | ||
| ENST00000521672.6:c.668_671dup | ENSP00000429485.2:p.Trp224CysfsTer12 | |
| ENST00000676504.1:n.1606_1609dup | ||
| ENST00000676589.1:c.947_950dup | ENSP00000503283.1:p.Trp317CysfsTer12 | |
| ENST00000676613.1:c.*1607_*1610dup | ENSP00000503767.1:n.*1607_*1610dup | |
| ENST00000676625.1:n.3277_3280dup | ||
| ENST00000677297.1:c.347_350dup | ENSP00000504016.1:p.Trp117CysfsTer12 | |
| ENST00000677325.1:c.668_671dup | ENSP00000503781.1:p.Trp224CysfsTer12 | |
| ENST00000677357.1:c.893_896dup | ENSP00000504740.1:p.Trp299CysfsTer12 | |
| ENST00000677467.1:n.2285_2288dup | ||
| ENST00000677600.1:n.2178_2181dup | ||
| ENST00000677672.1:n.2283_2286dup | ||
| ENST00000677682.1:n.2190_2193dup | ||
| ENST00000677741.1:n.2126_2129dup | ||
| ENST00000677904.1:n.1136_1139dup | ||
| ENST00000677907.1:c.581_584dup | ENSP00000504308.1:p.Trp195CysfsTer12 | |
| ENST00000678186.1:n.2330_2333dup | ||
| ENST00000678267.1:c.*1961_*1964dup | ENSP00000504107.1:n.*1961_*1964dup | |
| ENST00000678280.1:c.*845_*848dup | ENSP00000503235.1:n.*845_*848dup | |
| ENST00000678774.1:c.*336_*339dup | ENSP00000503150.1:n.*336_*339dup | |
| ENST00000679190.1:c.*43_*46dup | ENSP00000503408.1:n.*43_*46dup | |
| ENST00000296930.9:c.860_863dup | ENSP00000296930.5:p.Trp288CysfsTer12 | |
| ENST00000351986.10:c.773_776dup | ENSP00000341168.6:p.Trp259CysfsTer12 | |
| ENST00000517671.5:c.860_863dup | ENSP00000428755.1:p.Trp288CysfsTer12 | |
| ENST00000524204.1:n.296_299dup | ||
| NM_002520.6:c.860_863dup , LRG_458t1:c.860_863dup | NP_002511.1:p.Trp288CysfsTer12 | |
| NM_199185.3:c.773_776dup | NP_954654.1:p.Trp259CysfsTer12 | |
| XM_011534564.1:c.668_671dup | XP_011532866.1:p.Trp224CysfsTer12 | |
| NM_001355006.1:c.860_863dup | NP_001341935.1:p.Trp288CysfsTer12 | |
| NM_001355007.1:c.668_671dup | NP_001341936.1:p.Trp224CysfsTer12 | |
| NM_001355010.1:c.479_482dup | NP_001341939.1:p.Trp161CysfsTer12 | |
| NR_149149.1:n.977_980dup | ||
| NM_001355006.2:c.860_863dup | NP_001341935.1:p.Trp288CysfsTer12 | |
| NM_001355007.2:c.668_671dup | NP_001341936.1:p.Trp224CysfsTer12 | |
| NM_001355010.2:c.479_482dup | NP_001341939.1:p.Trp161CysfsTer12 | |
| NM_002520.7:c.860_863dup MANE Select | NP_002511.1:p.Trp288CysfsTer12 | |
| NM_199185.4:c.773_776dup | NP_954654.1:p.Trp259CysfsTer12 | |
| NR_149149.2:n.832_835dup |