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.60947264del , CM000679.2:g.60947264del | GRCh38 |
| NC_000017.10:g.59024625del , CM000679.1:g.59024625del | GRCh37 |
| NC_000017.9:g.56379407del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017679.5:c.1133del MANE Select | NP_060149.3:p.Val378AlafsTer5 |
| ENST00000407086.8:c.1133del MANE Select | ENSP00000385323.2:p.Val378AlafsTer5 |
| NM_001099432.1:c.1133del | NP_001092902.1:p.Val378AlafsTer5 |
| NM_001099432.2:c.1133del | NP_001092902.1:p.Val378AlafsTer5 |
| NM_001099432.3:c.1133del | NP_001092902.1:p.Val378AlafsTer5 |
| NM_001320470.2:c.1133del | NP_001307399.1:p.Val378AlafsTer5 |
| NM_001320470.3:c.1133del | NP_001307399.1:p.Val378AlafsTer5 |
| NM_001330413.1:c.1133del | NP_001317342.1:p.Val378AlafsTer5 |
| NM_001330413.2:c.1133del | NP_001317342.1:p.Val378AlafsTer5 |
| NM_001330414.1:c.1133del | NP_001317343.1:p.Val378AlafsTer5 |
| NM_001330414.2:c.1133del | NP_001317343.1:p.Val378AlafsTer5 |
| NM_001353144.1:c.1133del | NP_001340073.1:p.Val378AlafsTer5 |
| NM_001353144.2:c.1133del | NP_001340073.1:p.Val378AlafsTer5 |
| NM_001353145.1:c.1133del | NP_001340074.1:p.Val378AlafsTer5 |
| NM_001353145.2:c.1133del | NP_001340074.1:p.Val378AlafsTer5 |
| NM_001353146.1:c.1133del | NP_001340075.1:p.Val378AlafsTer5 |
| NM_001353146.2:c.1133del | NP_001340075.1:p.Val378AlafsTer5 |
| NM_017679.3:c.1133del | NP_060149.3:p.Val378AlafsTer5 |
| NM_017679.4:c.1133del | NP_060149.3:p.Val378AlafsTer5 |
| ENST00000390652.9:c.1133del | ENSP00000375067.4:p.Val378AlafsTer5 |
| ENST00000407086.7:c.1133del | ENSP00000385323.2:p.Val378AlafsTer5 |
| ENST00000408905.7:c.1133del | ENSP00000386173.2:p.Val378AlafsTer5 |
| ENST00000585744.5:c.446del | ENSP00000468682.1:p.Val149AlafsTer5 |
| ENST00000586041.1:n.406del | |
| ENST00000586484.1:c.446del | ENSP00000466552.1:p.Val149AlafsTer5 |
| ENST00000588462.5:c.1133del | ENSP00000468592.1:p.Val378AlafsTer5 |
| ENST00000588874.5:c.446del | ENSP00000464825.1:p.Val149AlafsTer5 |
| ENST00000589222.5:c.1133del | ENSP00000466078.1:p.Val378AlafsTer5 |
| ENST00000590128.5:c.446del | ENSP00000465175.1:p.Val149AlafsTer5 |
| ENST00000613443.4:c.656del | ENSP00000485015.2:p.Val219AlafsTer5 |
| ENST00000614888.4:c.656del | ENSP00000484605.2:p.Val219AlafsTer5 |
| XM_005257472.1:c.1133del | XP_005257529.1:p.Val378AlafsTer5 |
| XM_005257475.1:c.1133del | XP_005257532.1:p.Val378AlafsTer5 |
| XM_011524939.1:c.1133del | XP_011523241.1:p.Val378AlafsTer5 |
| XM_011524939.2:c.1133del | XP_011523241.1:p.Val378AlafsTer5 |
| XM_011524940.1:c.1133del | XP_011523242.1:p.Val378AlafsTer5 |
| XM_011524940.2:c.1133del | XP_011523242.1:p.Val378AlafsTer5 |
| XM_011524941.1:c.1133del | XP_011523243.1:p.Val378AlafsTer5 |
| XM_011524941.2:c.1133del | XP_011523243.1:p.Val378AlafsTer5 |
| XM_011524942.1:c.1133del | XP_011523244.1:p.Val378AlafsTer5 |
| XM_011524942.3:c.1133del | XP_011523244.1:p.Val378AlafsTer5 |
| XM_011524943.1:c.1133del | XP_011523245.1:p.Val378AlafsTer5 |
| XM_011524943.3:c.1133del | XP_011523245.1:p.Val378AlafsTer5 |
| XM_011524944.1:c.1133del | XP_011523246.1:p.Val378AlafsTer5 |
| XM_011524945.1:c.1133del | XP_011523247.1:p.Val378AlafsTer5 |
| XM_011524946.1:c.1133del | XP_011523248.1:p.Val378AlafsTer5 |
| XM_011524946.3:c.1133del | XP_011523248.1:p.Val378AlafsTer5 |
| XM_011524947.1:c.1133del | XP_011523249.1:p.Val378AlafsTer5 |
| XM_011524947.2:c.1133del | XP_011523249.1:p.Val378AlafsTer5 |
| XM_011524948.1:c.1133del | XP_011523250.1:p.Val378AlafsTer5 |
| XM_011524948.3:c.1133del | XP_011523250.1:p.Val378AlafsTer5 |
| XM_011524949.1:c.1133del | XP_011523251.1:p.Val378AlafsTer5 |
| XM_011524949.3:c.1133del | XP_011523251.1:p.Val378AlafsTer5 |
| XM_011524950.1:c.1133del | XP_011523252.1:p.Val378AlafsTer5 |
| XM_011524950.2:c.1133del | XP_011523252.1:p.Val378AlafsTer5 |
| XM_011524951.1:c.1133del | XP_011523253.1:p.Val378AlafsTer5 |
| XM_011524951.3:c.1133del | XP_011523253.1:p.Val378AlafsTer5 |
| XM_011524952.1:c.446del | XP_011523254.1:p.Val149AlafsTer5 |
| XM_017024783.2:c.1133del | XP_016880272.1:p.Val378AlafsTer5 |
| XM_017024784.2:c.1133del | XP_016880273.1:p.Val378AlafsTer5 |
| XM_017024785.2:c.1133del | XP_016880274.1:p.Val378AlafsTer5 |
| XM_017024786.2:c.1133del | XP_016880275.1:p.Val378AlafsTer5 |
| XM_017024787.2:c.1133del | XP_016880276.1:p.Val378AlafsTer5 |
| XM_017024788.2:c.1133del | XP_016880277.1:p.Val378AlafsTer5 |
| XM_017024789.2:c.1133del | XP_016880278.1:p.Val378AlafsTer5 |
| XM_017024790.2:c.1133del | XP_016880279.1:p.Val378AlafsTer5 |
| XM_017024793.2:c.1133del | XP_016880282.1:p.Val378AlafsTer5 |
| XM_017024794.2:c.1133del | XP_016880283.1:p.Val378AlafsTer5 |
| XM_017024795.2:c.1133del | XP_016880284.1:p.Val378AlafsTer5 |
| XM_017024796.1:c.446del | XP_016880285.1:p.Val149AlafsTer5 |
| XM_024450812.1:c.1133del | XP_024306580.1:p.Val378AlafsTer5 |
| XM_024450813.1:c.446del | XP_024306581.1:p.Val149AlafsTer5 |
| XR_001752547.2:n.1187del | |
| XR_934493.1:n.1193del | |
| XR_934493.3:n.1187del |