INTERRUPTION NOTICE:2025-11-04T19:00:00-0500 — 2025-11-14T08:00:00-0500
We are currently experiencing disruptions with our internal data streaming service which are affecting data exchange across multiple applications causing delay in real-time message broadcasting and notifications.
We are currently experiencing disruptions with our internal data streaming service which are affecting data exchange across multiple applications causing delay in real-time message broadcasting and notifications.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150512607_150513769del , CM000663.2:g.150512607_150513769del | GRCh38 |
| NC_000001.10:g.150485083_150486245del , CM000663.1:g.150485083_150486245del | GRCh37 |
| NC_000001.9:g.148751707_148752869del | NCBI36 |
| NG_012062.1:g.9597_10759del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001202858.1:c.1385+35_*302del | |
| NM_001202858.2:c.1385+35_*302del | |
| NM_004425.3:c.1304+35_*302del | |
| NM_004425.4:c.1304+35_*302del | |
| NM_022664.2:c.929+35_*302del | |
| NM_022664.3:c.929+35_*302del | |
| ENST00000369047.8:c.1304+35_*302del | |
| ENST00000369047.9:c.1304+35_*302del |