Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.174337301del , CM000664.2:g.174337301del | GRCh38 |
| NC_000002.11:g.175202029del , CM000664.1:g.175202029del | GRCh37 |
| NC_000002.10:g.174910275del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001145250.2:c.1216del MANE Select | NP_001138722.1:p.His406ThrfsTer2 |
| ENST00000394967.3:c.1216del MANE Select | ENSP00000378418.2:p.His406ThrfsTer2 |
| NM_001145250.1:c.1216del | NP_001138722.1:p.His406ThrfsTer2 |
| ENST00000394967.2:c.1216del | ENSP00000378418.2:p.His406ThrfsTer2 |
| XR_922825.1:n.1349del | |
| XR_922826.1:n.1349del | |
| XR_922827.1:n.1349del |