Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94988902_94988903del , CM000672.2:g.94988902_94988903del | GRCh38 |
| NC_000010.10:g.96748659_96748660del , CM000672.1:g.96748659_96748660del | GRCh37 |
| NC_000010.9:g.96738649_96738650del | NCBI36 |
| NG_008385.1:g.55245_55246del | |
| NG_008385.2:g.55745_55746del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.1347_1348del MANE Select | ENSP00000260682.6:p.Thr450LeufsTer7 | |
| ENST00000643112.1:c.*356_*357del | ENSP00000496202.1:n.*356_*357del | |
| ENST00000260682.6:c.1347_1348del | ENSP00000260682.6:p.Thr450LeufsTer7 | |
| NM_000771.3:c.1347_1348del | NP_000762.2:p.Thr450LeufsTer7 | |
| NM_000771.4:c.1347_1348del MANE Select | NP_000762.2:p.Thr450LeufsTer7 |