Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18122138_18122139del , CM000668.2:g.18122138_18122139del | GRCh38 |
| NC_000006.11:g.18122369_18122370del , CM000668.1:g.18122369_18122370del | GRCh37 |
| NC_000006.10:g.18230348_18230349del | NCBI36 |
| NG_016750.1:g.5482_5483del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_198586.3:c.468_469del MANE Select | NP_940988.2:p.Gly158ArgfsTer17 |
| ENST00000340650.6:c.468_469del MANE Select | ENSP00000345464.3:p.Gly158ArgfsTer17 |
| NM_198586.2:c.468_469del | NP_940988.2:p.Gly158ArgfsTer17 |
| ENST00000340650.4:c.468_469del | ENSP00000345464.3:p.Gly158ArgfsTer17 |