Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.121447838del , CM000668.2:g.121447838del | GRCh38 |
| NC_000006.11:g.121768984del , CM000668.1:g.121768984del | GRCh37 |
| NC_000006.10:g.121810683del | NCBI36 |
| NG_008308.1:g.17240del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000165.5:c.991del MANE Select | NP_000156.1:p.His331MetfsTer17 |
| ENST00000282561.4:c.991del MANE Select | ENSP00000282561.3:p.His331MetfsTer17 |
| NM_000165.4:c.991del | NP_000156.1:p.His331MetfsTer17 |
| ENST00000282561.3:c.991del | ENSP00000282561.3:p.His331MetfsTer17 |
| ENST00000647564.1:c.991del | ENSP00000497565.1:p.His331MetfsTer17 |
| ENST00000649003.1:c.991del | ENSP00000497283.1:p.His331MetfsTer17 |
| ENST00000650427.1:c.991del | ENSP00000497367.1:p.His331MetfsTer17 |