Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80085790_80092153del , CM000679.2:g.80085790_80092153del | GRCh38 |
| NC_000017.10:g.78059589_78065952del , CM000679.1:g.78059589_78065952del | GRCh37 |
| NC_000017.9:g.75674184_75680547del | NCBI36 |
| NG_029761.1:g.54159_60522del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397545.9:c.2236-213_2832+2269del | ||
| ENST00000397545.8:c.2236-213_2832+2269del | ||
| ENST00000572253.5:n.863-213_3083+2269del | ||
| ENST00000574799.5:n.1773-213_2369+2269del | ||
| NM_017950.3:c.2236-213_2832+2269del | ||
| XM_011524963.1:c.2146-213_2742+2269del | ||
| XM_011524964.1:c.1057-213_1653+2269del | ||
| XM_011524963.3:c.2146-213_2742+2269del | ||
| XM_011524964.3:c.1057-213_1653+2269del | ||
| XM_024450821.1:c.2146-213_2742+2269del | ||
| XR_934495.2:n.2267-213_2950+2269del | ||
| NM_017950.4:c.2236-213_2832+2269del |