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_000009.12:g.101430776del , CM000671.2:g.101430776del | GRCh38 |
| NC_000009.11:g.104193058del , CM000671.1:g.104193058del | GRCh37 |
| NC_000009.10:g.103232879del | NCBI36 |
| NG_012387.1:g.10006del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000035.3:c.112+1del | |
| NM_000035.4:c.112+1del | |
| ENST00000374855.8:c.112+1del | |
| ENST00000616752.1:c.112+1del | |
| ENST00000647789.2:c.112+1del | |
| ENST00000648064.1:c.112+1del | |
| ENST00000648423.1:c.112+1del | |
| ENST00000648758.1:c.112+1del | |
| ENST00000648906.1:n.282+1del | |
| ENST00000649902.1:c.112+1del | |
| ENST00000650613.1:n.188+1del |