Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152816del , CM000677.2:g.80152816del | GRCh38 |
| NC_000015.9:g.80445158del , CM000677.1:g.80445158del | GRCh37 |
| NC_000015.8:g.78232213del | NCBI36 |
| NG_012833.1:g.4818del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.-239del | ENSP00000507680.1:n.-239del | |
| ENST00000261755.9:c.-55del | ENSP00000261755.5:n.-55del | |
| ENST00000407106.5:c.-119del | ENSP00000385080.1:n.-119del | |
| ENST00000537726.5:n.28del | ||
| ENST00000558022.5:c.-29-210del | ENSP00000453152.1:n.-29-210del | |
| ENST00000558767.5:n.23del | ||
| NM_001374377.1:c.-119del | NP_001361306.1:n.-119del | |
| NM_001374380.1:c.-55del | NP_001361309.1:n.-55del |