Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23431015del , CM000676.2:g.23431015del | GRCh38 |
| NC_000014.8:g.23900224del , CM000676.1:g.23900224del | GRCh37 |
| NC_000014.7:g.22970064del | NCBI36 |
| NG_007884.1:g.9650del , LRG_384:g.9650del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.797-13del MANE Select | ENSP00000347507.3:n.797-13del | |
| ENST00000355349.3:c.797-13del | ENSP00000347507.3:n.797-13del | |
| NM_000257.3:c.797-13del | NP_000248.2:n.797-13del | |
| XR_245686.3:n.903-13del | ||
| XM_017021340.1:c.797-13del | XP_016876829.1:n.797-13del | |
| NM_000257.4:c.797-13del MANE Select | NP_000248.2:n.797-13del |