Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739652_86739655del , CM000670.2:g.86739652_86739655del | GRCh38 |
| NC_000008.10:g.87751880_87751883del , CM000670.1:g.87751880_87751883del | GRCh37 |
| NC_000008.9:g.87820996_87820999del | NCBI36 |
| NG_016980.1:g.9021_9024del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.211_211+3del | ||
| ENST00000681746.1:c.211_211+3del | ||
| ENST00000320005.5:c.211_211+3del | ||
| ENST00000519777.1:n.193_193+3del | ||
| NM_019098.4:c.211_211+3del | ||
| NM_019098.5:c.211_211+3del |