Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013547_25013607del , CM000685.2:g.25013547_25013607del | GRCh38 |
| NC_000023.10:g.25031664_25031724del , CM000685.1:g.25031664_25031724del | GRCh37 |
| NC_000023.9:g.24941585_24941645del | NCBI36 |
| NG_008281.1:g.7346_7406del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.392_452del MANE Select | ENSP00000368332.4:p.Pro131ArgfsTer17 | |
| ENST00000379044.4:c.392_452del | ENSP00000368332.4:p.Pro131ArgfsTer17 | |
| NM_139058.2:c.392_452del | NP_620689.1:p.Pro131ArgfsTer17 | |
| NM_139058.3:c.392_452del MANE Select | NP_620689.1:p.Pro131ArgfsTer17 |