Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42943228_42943289del , CM000663.2:g.42943228_42943289del | GRCh38 |
| NC_000001.10:g.43408899_43408960del , CM000663.1:g.43408899_43408960del | GRCh37 |
| NC_000001.9:g.43181486_43181547del | NCBI36 |
| NG_008232.1:g.20891_20952del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.54_114+1del | ||
| ENST00000674765.1:c.54_114+1del | ||
| ENST00000675112.1:n.77_137+1del | ||
| ENST00000372500.4:c.19-12080_19-12019del | ENSP00000361578.4:n.19-12080_19-12019del | |
| ENST00000415851.6:n.271_331+1del | ||
| ENST00000426263.7:c.54_114+1del | ||
| ENST00000625233.2:n.262_322+1del | ||
| ENST00000628173.1:n.273_333+1del | ||
| ENST00000630287.2:c.54_114+1del | ||
| ENST00000630821.1:n.271_332del | ||
| NM_006516.2:c.54_114+1del | ||
| NM_006516.3:c.54_114+1del | ||
| NM_006516.4:c.54_114+1del |