Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72122762_72122772del , CM000679.2:g.72122762_72122772del | GRCh38 |
| NC_000017.10:g.70118903_70118913del , CM000679.1:g.70118903_70118913del | GRCh37 |
| NC_000017.9:g.67630498_67630508del | NCBI36 |
| NG_012490.1:g.6743_6753del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.475_485del MANE Select | ENSP00000245479.2:p.Glu159ArgfsTer? | |
| ENST00000245479.2:c.475_485del | ENSP00000245479.2:p.Glu159ArgfsTer? | |
| NM_000346.3:c.475_485del | NP_000337.1:p.Glu159ArgfsTer? | |
| NM_000346.4:c.475_485del MANE Select | NP_000337.1:p.Glu159ArgfsTer? |