Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25012884_25012888del , CM000685.2:g.25012884_25012888del | GRCh38 |
| NC_000023.10:g.25031001_25031005del , CM000685.1:g.25031001_25031005del | GRCh37 |
| NC_000023.9:g.24940922_24940926del | NCBI36 |
| NG_008281.1:g.8061_8065del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1073+34_1073+38del MANE Select | ENSP00000368332.4:n.1073+34_1073+38del | |
| ENST00000379044.4:c.1073+34_1073+38del | ENSP00000368332.4:n.1073+34_1073+38del | |
| NM_139058.2:c.1073+34_1073+38del | NP_620689.1:n.1073+34_1073+38del | |
| NM_139058.3:c.1073+34_1073+38del MANE Select | NP_620689.1:n.1073+34_1073+38del |