Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152809_80152847del , CM000677.2:g.80152809_80152847del | GRCh38 |
| NC_000015.9:g.80445151_80445189del , CM000677.1:g.80445151_80445189del | GRCh37 |
| NC_000015.8:g.78232206_78232244del | NCBI36 |
| NG_012833.1:g.4811_4849del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558767.6:c.-246_-208del | ENSP00000507680.1:n.-246_-208del | |
| ENST00000261755.9:c.-62_-30+6del | ||
| ENST00000407106.5:c.-126_-88del | ENSP00000385080.1:n.-126_-88del | |
| ENST00000537726.5:n.21_53+6del | ||
| ENST00000558022.5:c.-29-217_-29-179del | ENSP00000453152.1:n.-29-217_-29-179del | |
| ENST00000558767.5:n.16_54del | ||
| NM_001374377.1:c.-126_-88del | NP_001361306.1:n.-126_-88del | |
| NM_001374380.1:c.-62_-30+6del |