Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40867042del , CM000679.2:g.40867042del | GRCh38 |
| NC_000017.10:g.39023294del , CM000679.1:g.39023294del | GRCh37 |
| NC_000017.9:g.36276820del | NCBI36 |
| NG_008077.1:g.5171del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251643.5:c.147del MANE Select | ENSP00000251643.4:p.Phe49LeufsTer? | |
| ENST00000647902.1:c.147del | ENSP00000497770.1:p.Phe49LeufsTer26 | |
| ENST00000251643.4:c.147del | ENSP00000251643.4:p.Phe49LeufsTer? | |
| NM_000223.3:c.147del | NP_000214.1:p.Phe49LeufsTer? | |
| XR_934754.1:n.1500+16182del | ||
| XR_934754.2:n.2008+16182del | ||
| NM_000223.4:c.147del MANE Select | NP_000214.1:p.Phe49LeufsTer? |