Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25015566del , CM000685.2:g.25015566del | GRCh38 |
| NC_000023.10:g.25033683del , CM000685.1:g.25033683del | GRCh37 |
| NC_000023.9:g.24943604del | NCBI36 |
| NG_008281.1:g.5383del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.172del MANE Select | ENSP00000368332.4:p.Ala58ProfsTer? | |
| ENST00000379044.4:c.172del | ENSP00000368332.4:p.Ala58ProfsTer? | |
| NM_139058.2:c.172del | NP_620689.1:p.Ala58ProfsTer? | |
| NM_139058.3:c.172del MANE Select | NP_620689.1:p.Ala58ProfsTer? |