Linked Data
gnomAD v4:
17-4933871-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4933871_4933872insT , CM000679.2:g.4933871_4933872insT | GRCh38 |
| NC_000017.10:g.4837166_4837167insT , CM000679.1:g.4837166_4837167insT | GRCh37 |
| NC_000017.9:g.4777946_4777947insT | NCBI36 |
| NG_008767.2:g.6577_6578insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329125.6:c.1267_1268insT (GP1BA) MANE Select | ENSP00000329380.5:p.Thr423IlefsTer? | |
| ENST00000649830.1:c.-888+470_-888+471insA (CHRNE) | ENSP00000496907.1:n.-888+470_-888+471insA | |
| ENST00000329125.5:c.1267_1268insT (GP1BA) | ENSP00000329380.5:p.Thr423IlefsTer? | |
| ENST00000611961.1:c.1267_1268insT (GP1BA) | ENSP00000484439.1:p.Thr423IlefsTer? | |
| NM_000173.6:c.1267_1268insT (GP1BA) | NP_000164.5:p.Thr423IlefsTer? | |
| NM_000173.7:c.1267_1268insT (GP1BA) MANE Select | NP_000164.5:p.Thr423IlefsTer? |