Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186197127_186197133del , CM000666.2:g.186197127_186197133del | GRCh38 |
| NC_000004.11:g.187118281_187118287del , CM000666.1:g.187118281_187118287del | GRCh37 |
| NC_000004.10:g.187355275_187355281del | NCBI36 |
| NG_007965.1:g.10608_10614del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.601_604+3del | ||
| ENST00000378802.4:c.601_604+3del | ||
| ENST00000507209.5:n.1040_1046del | ||
| NM_207352.3:c.601_604+3del | ||
| XM_005262935.2:c.601_604+3del | ||
| XM_006714184.2:c.205_208+3del | ||
| XM_005262935.4:c.601_604+3del | ||
| XM_017008037.1:c.205_208+3del | ||
| NM_207352.4:c.601_604+3del |