Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658599_10658608del , CM000682.2:g.10658599_10658608del | GRCh38 |
| NC_000020.10:g.10639247_10639256del , CM000682.1:g.10639247_10639256del | GRCh37 |
| NC_000020.9:g.10587247_10587256del | NCBI36 |
| NG_007496.1:g.20443_20452del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.558_567del MANE Select | ENSP00000254958.4:p.Cys187ThrfsTer? | |
| ENST00000254958.9:c.558_567del | ENSP00000254958.4:p.Cys187ThrfsTer? | |
| ENST00000423891.6:n.424_433del | ||
| NM_000214.2:c.558_567del | NP_000205.1:p.Cys187ThrfsTer? | |
| NM_000214.3:c.558_567del MANE Select | NP_000205.1:p.Cys187ThrfsTer? |