Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152791_80152800del , CM000677.2:g.80152791_80152800del | GRCh38 |
| NC_000015.9:g.80445133_80445142del , CM000677.1:g.80445133_80445142del | GRCh37 |
| NC_000015.8:g.78232188_78232197del | NCBI36 |
| NG_012833.1:g.4793_4802del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407106.5:c.-144_-135del | ENSP00000385080.1:n.-144_-135del | |
| ENST00000537726.5:n.3_12del | ||
| ENST00000558022.5:c.-29-235_-29-226del | ENSP00000453152.1:n.-29-235_-29-226del | |
| NM_001374377.1:c.-144_-135del | NP_001361306.1:n.-144_-135del | |
| NM_001374380.1:c.-80_-71del | NP_001361309.1:n.-80_-71del |