Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74749931_74749932del , CM000677.2:g.74749931_74749932del | GRCh38 |
| NC_000015.9:g.75042272_75042273del , CM000677.1:g.75042272_75042273del | GRCh37 |
| NC_000015.8:g.72829325_72829326del | NCBI36 |
| NG_008431.1:g.32390_32391del | |
| NG_008431.2:g.32390_32391del | |
| NG_061543.1:g.6087_6088del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.193_194del MANE Select | ENSP00000342007.4:p.Leu65ValfsTer? | |
| ENST00000343932.4:c.193_194del | ENSP00000342007.4:p.Leu65ValfsTer? | |
| NM_000761.4:c.193_194del | NP_000752.2:p.Leu65ValfsTer? | |
| NM_000761.5:c.193_194del MANE Select | NP_000752.2:p.Leu65ValfsTer? |