Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148827362_148827363insGT , CM000667.2:g.148827362_148827363insGT | GRCh38 |
| NC_000005.9:g.148206925_148206926insGT , CM000667.1:g.148206925_148206926insGT | GRCh37 |
| NC_000005.8:g.148187118_148187119insGT | NCBI36 |
| NG_016421.1:g.5770_5771insGT | |
| NG_016421.2:g.5770_5771insGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.531_532insGT MANE Select | ENSP00000305372.4:p.His178ValfsTer? | |
| ENST00000305988.5:c.531_532insGT | ENSP00000305372.4:p.His178ValfsTer? | |
| NM_000024.5:c.531_532insGT | NP_000015.1:p.His178ValfsTer? | |
| NM_000024.6:c.531_532insGT MANE Select | NP_000015.2:p.His178ValfsTer? |