Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767416_28767417del , CM000676.2:g.28767416_28767417del | GRCh38 |
| NC_000014.8:g.29236622_29236623del , CM000676.1:g.29236622_29236623del | GRCh37 |
| NC_000014.7:g.28306373_28306374del | NCBI36 |
| NG_009367.1:g.5336_5337del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.137_138del | ENSP00000516406.1:p.Gln46ProfsTer? | |
| ENST00000313071.7:c.137_138del MANE Select | ENSP00000339004.3:p.Gln46ProfsTer? | |
| ENST00000313071.6:c.137_138del | ENSP00000339004.3:p.Gln46ProfsTer? | |
| NM_005249.4:c.137_138del | NP_005240.3:p.Gln46ProfsTer? | |
| NM_005249.5:c.137_138del MANE Select | NP_005240.3:p.Gln46ProfsTer? |