Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185145175del , CM000666.2:g.185145175del | GRCh38 |
| NC_000004.11:g.186066329del , CM000666.1:g.186066329del | GRCh37 |
| NC_000004.10:g.186303323del | NCBI36 |
| NG_013001.1:g.6913del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001151.4:c.523del MANE Select | NP_001142.2:p.Gln175ArgfsTer? |
| ENST00000281456.11:c.523del MANE Select | ENSP00000281456.5:p.Gln175ArgfsTer? |
| NM_001151.3:c.523del | NP_001142.2:p.Gln175ArgfsTer? |
| ENST00000281456.10:c.523del | ENSP00000281456.5:p.Gln175ArgfsTer? |
| ENST00000491736.1:c.523del | ENSP00000476711.1:p.Gln175ArgfsTer29 |