Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960476_47960477del , CM000670.2:g.47960476_47960477del | GRCh38 |
| NC_000008.10:g.48873036_48873037del , CM000670.1:g.48873036_48873037del | GRCh37 |
| NC_000008.9:g.49035589_49035590del | NCBI36 |
| NG_023435.1:g.4709_4710del , LRG_162:g.4709_4710del | |
| NG_032967.1:g.5274_5275del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518221.5:c.-15+156_-15+157del | ENSP00000430329.1:n.-15+156_-15+157del | |
| NM_005914.3:c.-669_-668del | NP_005905.2:n.-669_-668del | |
| NM_182746.2:c.-553_-552del | NP_877423.1:n.-553_-552del | |
| XM_005251234.1:c.-915_-914del | XP_005251291.1:n.-915_-914del |