Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154902048_154902051del , CM000685.2:g.154902048_154902051del | GRCh38 |
| NC_000023.10:g.154130323_154130326del , CM000685.1:g.154130323_154130326del | GRCh37 |
| NC_000023.9:g.153783517_153783520del | NCBI36 |
| NG_011403.1:g.125676_125679del | |
| NG_011403.2:g.125676_125679del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.3:c.6115+3_6115+6del | |
| NM_000132.4:c.6115+3_6115+6del | |
| ENST00000360256.8:c.6115+3_6115+6del | |
| ENST00000360256.9:c.6115+3_6115+6del | |
| XM_011531126.1:c.6010+3_6010+6del |