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_000002.12:g.240868991del , CM000664.2:g.240868991del | GRCh38 |
| NC_000002.11:g.241808408del , CM000664.1:g.241808408del | GRCh37 |
| NC_000002.10:g.241457081del | NCBI36 |
| NG_008005.1:g.5247del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000030.3:c.126del MANE Select | NP_000021.1:p.Leu43CysfsTer3 |
| ENST00000307503.4:c.126del MANE Select | ENSP00000302620.3:p.Leu43CysfsTer3 |
| NM_000030.2:c.126del | NP_000021.1:p.Leu43CysfsTer3 |
| ENST00000307503.3:c.126del | ENSP00000302620.3:p.Leu43CysfsTer3 |
| ENST00000472436.1:n.146del | |
| XR_924060.1:n.405+1247del |