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.129814065_129814067del , CM000671.2:g.129814065_129814067del | GRCh38 |
| NC_000009.11:g.132576344_132576346del , CM000671.1:g.132576344_132576346del | GRCh37 |
| NC_000009.10:g.131616165_131616167del | NCBI36 |
| NG_008049.1:g.15099_15101del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000113.3:c.907_909del MANE Select | NP_000104.1:p.Glu303del |
| ENST00000351698.5:c.907_909del MANE Select | ENSP00000345719.4:p.Glu303del |
| NM_000113.2:c.907_909del | NP_000104.1:p.Glu303del |
| ENST00000351698.4:c.907_909del | ENSP00000345719.4:p.Glu303del |
| ENST00000474192.1:n.491_493del | |
| ENST00000651202.1:c.*175_*177del | ENSP00000498222.1:n.*175_*177del |
| XR_929731.1:n.1234_1236del | |
| XR_929731.3:n.1102_1104del |