Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72124053_72124056del , CM000679.2:g.72124053_72124056del | GRCh38 |
| NC_000017.10:g.70120194_70120197del , CM000679.1:g.70120194_70120197del | GRCh37 |
| NC_000017.9:g.67631789_67631792del | NCBI36 |
| NG_012490.1:g.8034_8037del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.1196_1199del MANE Select | ENSP00000245479.2:p.Thr399SerfsTer3 | |
| ENST00000245479.2:c.1196_1199del | ENSP00000245479.2:p.Thr399SerfsTer3 | |
| NM_000346.3:c.1196_1199del | NP_000337.1:p.Thr399SerfsTer3 | |
| NM_000346.4:c.1196_1199del MANE Select | NP_000337.1:p.Thr399SerfsTer3 |