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:
1402565
ClinVar RCV Id:
RCV001906484
dbSNP Id:
rs1568942285
gnomAD v2:
21-46925137-T-TCCCGGCCCCCCAGGCCCC
gnomAD v3:
21-45505223-T-TCCCGGCCCCCCAGGCCCC
gnomAD v4:
21-45505223-T-TCCCGGCCCCCCAGGCCCC
MyVariant Identifiers:
chr21:g.46925146_46925147insCCAGGCCCCCCCGGCCCC (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45505226_45505243dup , CM000683.2:g.45505226_45505243dup | GRCh38 |
| NC_000021.8:g.46925140_46925157dup , CM000683.1:g.46925140_46925157dup | GRCh37 |
| NC_000021.7:g.45749568_45749585dup | NCBI36 |
| NG_011903.1:g.105035_105052dup | |
| NG_028278.2:g.62903_62920dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355480.10:c.3501_3518dup (COL18A1) | ENSP00000347665.5:p.Pro1173_Gly1174insGlyProProGlyProPro | |
| ENST00000651438.1:c.2961_2978dup (COL18A1) MANE Select | ENSP00000498485.1:p.Pro993_Gly994insGlyProProGlyProPro | |
| ENST00000342220.9:c.1002_1019dup (COL18A1) | ENSP00000339118.5:p.Pro340_Gly341insGlyProProGlyProPro | |
| ENST00000355480.9:c.3501_3518dup (COL18A1) | ENSP00000347665.5:p.Pro1173_Gly1174insGlyProProGlyProPro | |
| ENST00000359759.8:c.4206_4223dup (COL18A1) | ENSP00000352798.4:p.Pro1408_Gly1409insGlyProProGlyProPro | |
| ENST00000400337.6:c.2961_2978dup (COL18A1) | ENSP00000383191.2:p.Pro993_Gly994insGlyProProGlyProPro | |
| ENST00000417954.5:c.498-6629_498-6612dup (SLC19A1) | ||
| ENST00000567670.5:c.1294-6629_1294-6612dup (SLC19A1) | ENSP00000457278.1:n.1294-6629_1294-6612dup | |
| NM_030582.3:c.3492_3509dup (COL18A1) | NP_085059.2:p.Pro1170_Gly1171insGlyProProGlyProPro | |
| NM_130444.2:c.4197_4214dup (COL18A1) | NP_569711.2:p.Pro1405_Gly1406insGlyProProGlyProPro | |
| NM_130445.3:c.2952_2969dup (COL18A1) | NP_569712.2:p.Pro990_Gly991insGlyProProGlyProPro | |
| XM_011529707.1:c.1585-2272_1585-2255dup (SLC19A1) | XP_011528009.1:n.1585-2272_1585-2255dup | |
| XM_017028445.2:c.1585-2272_1585-2255dup (SLC19A1) | XP_016883934.1:n.1585-2272_1585-2255dup | |
| NM_030582.4:c.3492_3509dup (COL18A1) | NP_085059.2:p.Pro1170_Gly1171insGlyProProGlyProPro | |
| NM_130444.3:c.4197_4214dup (COL18A1) | NP_569711.2:p.Pro1405_Gly1406insGlyProProGlyProPro | |
| NM_130445.4:c.2952_2969dup (COL18A1) | NP_569712.2:p.Pro990_Gly991insGlyProProGlyProPro | |
| NM_001379500.1:c.2961_2978dup (COL18A1) MANE Select | NP_001366429.1:p.Pro993_Gly994insGlyProProGlyProPro |