Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001987del , CM000663.2:g.94001987del | GRCh38 |
| NC_000001.10:g.94467543del , CM000663.1:g.94467543del | GRCh37 |
| NC_000001.9:g.94240131del | NCBI36 |
| NG_009073.1:g.124165del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6155del MANE Select | ENSP00000359245.3:p.Asn2052ThrfsTer9 | |
| ENST00000370225.3:c.6155del | ENSP00000359245.3:p.Asn2052ThrfsTer9 | |
| ENST00000465352.1:n.571del | ||
| ENST00000536513.5:c.2531del | ENSP00000439707.2:p.Asn844ThrfsTer9 | |
| NM_000350.2:c.6155del | NP_000341.2:p.Asn2052ThrfsTer9 | |
| NM_000350.3:c.6155del MANE Select | NP_000341.2:p.Asn2052ThrfsTer9 |