Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122508752del , CM000672.2:g.122508752del | GRCh38 |
| NC_000010.10:g.124268268del , CM000672.1:g.124268268del | GRCh37 |
| NC_000010.9:g.124258258del | NCBI36 |
| NG_011554.1:g.52228del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.1102del MANE Select | ENSP00000357980.3:p.His368MetfsTer20 | |
| ENST00000648167.1:c.784del | ENSP00000498033.1:p.His262MetfsTer20 | |
| ENST00000368984.7:c.1102del | ENSP00000357980.3:p.His368MetfsTer20 | |
| ENST00000420892.1:c.325del | ENSP00000412676.1:p.His109MetfsTer20 | |
| NM_002775.4:c.1102del | NP_002766.1:p.His368MetfsTer20 | |
| NM_002775.5:c.1102del MANE Select | NP_002766.1:p.His368MetfsTer20 |