Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320451_119320456delinsGTTCAA , CM000666.2:g.119320451_119320456delinsGTTCAA | GRCh38 |
| NC_000004.11:g.120241606_120241611delinsGTTCAA , CM000666.1:g.120241606_120241611delinsGTTCAA | GRCh37 |
| NC_000004.10:g.120461054_120461059delinsGTTCAA | NCBI36 |
| NG_011444.1:g.6706_6711delinsTTGAAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.240+214_240+219delinsTTGAAC MANE Select | ENSP00000274024.3:n.240+214_240+219delinsTTGAAC | |
| ENST00000274024.3:c.240+214_240+219delinsTTGAAC | ENSP00000274024.3:n.240+214_240+219delinsTTGAAC | |
| NM_000134.3:c.240+214_240+219delinsTTGAAC | NP_000125.2:n.240+214_240+219delinsTTGAAC | |
| NM_000134.4:c.240+214_240+219delinsTTGAAC MANE Select | NP_000125.2:n.240+214_240+219delinsTTGAAC |