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_000017.11:g.4933926_4933948del , CM000679.2:g.4933926_4933948del | GRCh38 |
| NC_000017.10:g.4837221_4837243del , CM000679.1:g.4837221_4837243del | GRCh37 |
| NC_000017.9:g.4777962_4777984del | NCBI36 |
| NG_008767.2:g.6632_6654del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000173.7:c.1322_1344del (GP1BA) MANE Select | NP_000164.5:p.Ser441TyrfsTer? |
| ENST00000329125.6:c.1322_1344del (GP1BA) MANE Select | ENSP00000329380.5:p.Ser441TyrfsTer? |
| NM_000173.6:c.1322_1344del (GP1BA) | NP_000164.5:p.Ser441TyrfsTer? |
| ENST00000329125.5:c.1322_1344del (GP1BA) | ENSP00000329380.5:p.Ser441TyrfsTer? |
| ENST00000611961.1:c.1273-29_1273-7del (GP1BA) | ENSP00000484439.1:n.1273-29_1273-7del |
| ENST00000649830.1:c.-888+394_-888+416del (CHRNE) | ENSP00000496907.1:n.-888+394_-888+416del |