Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73367760del , CM000677.2:g.73367760del | GRCh38 |
| NC_000015.9:g.73660101del , CM000677.1:g.73660101del | GRCh37 |
| NC_000015.8:g.71447154del | NCBI36 |
| NG_009063.1:g.6506del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.512del MANE Select | ENSP00000261917.3:p.Pro171HisfsTer? | |
| ENST00000261917.3:c.512del | ENSP00000261917.3:p.Pro171HisfsTer? | |
| NM_005477.2:c.512del | NP_005468.1:p.Pro171HisfsTer? | |
| NM_005477.3:c.512del MANE Select | NP_005468.1:p.Pro171HisfsTer? |