Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59269752_59269754del , CM000680.2:g.59269752_59269754del | GRCh38 |
| NC_000018.9:g.56936984_56936986del , CM000680.1:g.56936984_56936986del | GRCh37 |
| NC_000018.8:g.55087964_55087966del | NCBI36 |
| NG_013031.1:g.8653_8655del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_013435.3:c.544-240_544-238del MANE Select | NP_038463.2:n.544-240_544-238del |
| ENST00000334889.4:c.544-240_544-238del MANE Select | ENSP00000334813.3:n.544-240_544-238del |
| NM_013435.2:c.544-240_544-238del | NP_038463.2:n.544-240_544-238del |
| ENST00000256852.7:c.290-240_290-238del | ENSP00000256852.7:n.290-240_290-238del |
| ENST00000334889.3:c.544-240_544-238del | ENSP00000334813.3:n.544-240_544-238del |