Linked Data
gnomAD v4:
17-66228119-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66228121del , CM000679.2:g.66228121del | GRCh38 |
| NC_000017.10:g.64224239del , CM000679.1:g.64224239del | GRCh37 |
| NC_000017.9:g.61654701del | NCBI36 |
| NG_012045.1:g.6319del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205948.11:c.141del MANE Select | ENSP00000205948.6:p.Thr48ArgfsTer14 | |
| ENST00000205948.10:c.141del | ENSP00000205948.6:p.Thr48ArgfsTer14 | |
| ENST00000577982.1:c.141del | ENSP00000464301.1:p.Thr48ArgfsTer14 | |
| ENST00000581797.5:c.-40del | ENSP00000463553.1:n.-40del | |
| NM_000042.2:c.141del | NP_000033.2:p.Thr48ArgfsTer14 | |
| NM_000042.3:c.141del MANE Select | NP_000033.2:p.Thr48ArgfsTer14 |