Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.763902del , CM000673.2:g.763902del | GRCh38 |
| NC_000011.9:g.763902del , CM000673.1:g.763902del | GRCh37 |
| NC_000011.8:g.753902del | NCBI36 |
| NG_008160.1:g.21471del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000319006.8:c.793del MANE Select | ENSP00000321259.3:p.Gln265ArgfsTer? | |
| ENST00000319006.7:c.793del | ENSP00000321259.3:p.Gln265ArgfsTer? | |
| ENST00000528097.5:c.793del | ENSP00000437098.1:p.Gln265ArgfsTer17 | |
| NM_006755.1:c.793del | NP_006746.1:p.Gln265ArgfsTer? | |
| NM_006755.2:c.793del MANE Select | NP_006746.1:p.Gln265ArgfsTer? |