Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583259_41583268del , CM000679.2:g.41583259_41583268del | GRCh38 |
| NC_000017.10:g.39739511_39739520del , CM000679.1:g.39739511_39739520del | GRCh37 |
| NC_000017.9:g.36993037_36993046del | NCBI36 |
| NG_008624.1:g.8631_8640del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1244_1253del MANE Select | ENSP00000167586.6:p.Tyr415CysfsTer24 | |
| ENST00000167586.6:c.1244_1253del | ENSP00000167586.6:p.Tyr415CysfsTer24 | |
| ENST00000441550.2:n.191_200del | ||
| ENST00000476662.1:n.694_703del | ||
| NM_000526.4:c.1244_1253del | NP_000517.2:p.Tyr415CysfsTer24 | |
| NM_000526.5:c.1244_1253del MANE Select | NP_000517.3:p.Tyr415CysfsTer24 |