Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10643818del , CM000682.2:g.10643818del | GRCh38 |
| NC_000020.10:g.10624466del , CM000682.1:g.10624466del | GRCh37 |
| NC_000020.9:g.10572466del | NCBI36 |
| NG_007496.1:g.35229del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254958.10:c.2418del MANE Select | ENSP00000254958.4:p.Cys806TrpfsTer14 | |
| ENST00000617965.2:n.3007del | ||
| ENST00000254958.9:c.2418del | ENSP00000254958.4:p.Cys806TrpfsTer14 | |
| ENST00000423891.6:n.2284del | ||
| NM_000214.2:c.2418del | NP_000205.1:p.Cys806TrpfsTer14 | |
| NM_000214.3:c.2418del MANE Select | NP_000205.1:p.Cys806TrpfsTer14 |