Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92606299del , CM000672.2:g.92606299del | GRCh38 |
| NC_000010.10:g.94366056del , CM000672.1:g.94366056del | GRCh37 |
| NC_000010.9:g.94356036del | NCBI36 |
| NG_032580.1:g.18232del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260731.5:c.112del MANE Select | ENSP00000260731.3:p.His38IlefsTer3 | |
| ENST00000676621.1:c.112del | ENSP00000503639.1:p.His38IlefsTer3 | |
| ENST00000676647.1:c.-96del | ENSP00000503394.1:n.-96del | |
| ENST00000676757.1:c.-96del | ENSP00000504289.1:n.-96del | |
| ENST00000677720.1:c.112del | ENSP00000504840.1:p.His38IlefsTer3 | |
| ENST00000260731.4:c.112del | ENSP00000260731.3:p.His38IlefsTer3 | |
| NM_004523.3:c.112del | NP_004514.2:p.His38IlefsTer3 | |
| NM_004523.4:c.112del MANE Select | NP_004514.2:p.His38IlefsTer3 |