Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25012887_25012888del , CM000685.2:g.25012887_25012888del | GRCh38 |
| NC_000023.10:g.25031004_25031005del , CM000685.1:g.25031004_25031005del | GRCh37 |
| NC_000023.9:g.24940925_24940926del | NCBI36 |
| NG_008281.1:g.8065_8066del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1073+38_1073+39del MANE Select | ENSP00000368332.4:n.1073+38_1073+39del | |
| ENST00000379044.4:c.1073+38_1073+39del | ENSP00000368332.4:n.1073+38_1073+39del | |
| NM_139058.2:c.1073+38_1073+39del | NP_620689.1:n.1073+38_1073+39del | |
| NM_139058.3:c.1073+38_1073+39del MANE Select | NP_620689.1:n.1073+38_1073+39del |