Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13944723_13947614del , CM000678.2:g.13944723_13947614del | GRCh38 |
| NC_000016.9:g.14038580_14041471del , CM000678.1:g.14038580_14041471del | GRCh37 |
| NC_000016.8:g.13946081_13948972del | NCBI36 |
| NG_011442.1:g.29567_32458del , LRG_463:g.29567_32458del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005236.2:c.1905_2018del , LRG_463t1:c.1905_2018del | |
| NM_005236.3:c.1905_2018del | |
| ENST00000311895.7:c.1905_2018del | |
| ENST00000311895.8:c.1905_2018del | |
| ENST00000389138.7:n.1182_1295del | |
| ENST00000462862.1:c.218_331del | |
| ENST00000682617.1:c.2043_2156del | |
| ENST00000683962.1:c.*1599_*1712del | |
| XM_011522424.1:c.2043_2156del | |
| XM_011522424.3:c.2043_2156del | |
| XM_011522425.1:c.1362_1475del | |
| XM_011522426.1:c.1116_1229del | |
| XM_011522427.1:c.555_668del | |
| XM_017023043.2:c.1116_1229del | |
| XR_932805.1:n.2064_2177del |