Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88809698_88811901del , CM000678.2:g.88809698_88811901del | GRCh38 |
| NC_000016.9:g.88876106_88878309del , CM000678.1:g.88876106_88878309del | GRCh37 |
| NC_000016.8:g.87403607_87405810del | NCBI36 |
| NG_008013.1:g.5037_7240del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378364.8:c.2_*3del | ||
| ENST00000378364.7:c.2_*3del | ||
| ENST00000426324.6:c.2_*7del | ||
| ENST00000563655.5:c.2_*3del | ||
| ENST00000567391.5:c.2_*220del | ||
| ENST00000567713.5:c.2_322-160del | ||
| ENST00000568319.5:c.2_*86del | ||
| NM_000485.2:c.2_*3del | ||
| NM_001030018.1:c.2_*7del | ||
| NM_000485.3:c.2_*3del | ||
| NM_001030018.2:c.2_*7del |