Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013359_25013387del , CM000685.2:g.25013359_25013387del | GRCh38 |
| NC_000023.10:g.25031476_25031504del , CM000685.1:g.25031476_25031504del | GRCh37 |
| NC_000023.9:g.24941397_24941425del | NCBI36 |
| NG_008281.1:g.7568_7596del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.614_642del MANE Select | ENSP00000368332.4:p.Leu205ProfsTer23 | |
| ENST00000379044.4:c.614_642del | ENSP00000368332.4:p.Leu205ProfsTer23 | |
| NM_139058.2:c.614_642del | NP_620689.1:p.Leu205ProfsTer23 | |
| NM_139058.3:c.614_642del MANE Select | NP_620689.1:p.Leu205ProfsTer23 |