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_000007.14:g.94413926_94413927delinsTG , CM000669.2:g.94413926_94413927delinsTG | GRCh38 |
| NC_000007.13:g.94043238_94043239delinsTG , CM000669.1:g.94043238_94043239delinsTG | GRCh37 |
| NC_000007.12:g.93881174_93881175delinsTG | NCBI36 |
| NG_007405.1:g.24366_24367delinsTG , LRG_2:g.24366_24367delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.1644_1645delinsTG MANE Select | NP_000080.2:p.Pro549Ala |
| ENST00000297268.11:c.1644_1645delinsTG MANE Select | ENSP00000297268.6:p.Pro549Ala |
| NM_000089.3:c.1644_1645delinsTG , LRG_2t1:c.1644_1645delinsTG | NP_000080.2:p.Pro549Ala |
| ENST00000297268.10:c.1644_1645delinsTG | ENSP00000297268.6:p.Pro549Ala |
| ENST00000488298.5:n.68_69delinsTG | |
| ENST00000620463.1:c.1638_1639delinsTG | ENSP00000477719.1:p.Pro547Ala |