Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436492_67436496del , CM000678.2:g.67436492_67436496del | GRCh38 |
| NC_000016.9:g.67470395_67470399del , CM000678.1:g.67470395_67470399del | GRCh37 |
| NC_000016.8:g.66027896_66027900del | NCBI36 |
| NG_011482.1:g.49693_49697del | |
| NG_016549.1:g.10360_10364del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.803-96_803-92del MANE Select | ENSP00000316786.5:n.803-96_803-92del | |
| ENST00000326152.5:c.803-96_803-92del | ENSP00000316786.5:n.803-96_803-92del | |
| NM_000196.3:c.803-96_803-92del | NP_000187.3:n.803-96_803-92del | |
| NM_000196.4:c.803-96_803-92del MANE Select | NP_000187.3:n.803-96_803-92del |