Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87993195del , CM000676.2:g.87993195del | GRCh38 |
| NC_000014.8:g.88459539del , CM000676.1:g.88459539del | GRCh37 |
| NC_000014.7:g.87529292del | NCBI36 |
| NG_011853.2:g.5371del | |
| NG_011853.3:g.5371del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261304.6:c.-29del | ENSP00000261304.2:n.-29del | |
| ENST00000393569.6:c.117+190del | ENSP00000377199.2:n.117+190del | |
| NM_000153.3:c.-29del | NP_000144.2:n.-29del | |
| NM_001201401.1:c.-29del | NP_001188330.1:n.-29del | |
| NM_001201402.1:c.117+190del | NP_001188331.1:n.117+190del | |
| NM_001201402.2:c.117+190del | NP_001188331.1:n.117+190del |