Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64758693_64758696del , CM000673.2:g.64758693_64758696del | GRCh38 |
| NC_000011.9:g.64526165_64526168del , CM000673.1:g.64526165_64526168del | GRCh37 |
| NC_000011.8:g.64282741_64282744del | NCBI36 |
| NG_013018.1:g.7022_7025del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000164139.4:c.254_257del MANE Select | ENSP00000164139.3:p.Tyr85CysfsTer3 | |
| ENST00000164139.3:c.254_257del | ENSP00000164139.3:p.Tyr85CysfsTer3 | |
| ENST00000377432.7:c.244-428_244-425del | ENSP00000366650.3:n.244-428_244-425del | |
| NM_001164716.1:c.244-428_244-425del | NP_001158188.1:n.244-428_244-425del | |
| NM_005609.2:c.254_257del | NP_005600.1:p.Tyr85CysfsTer3 | |
| NM_005609.3:c.254_257del | NP_005600.1:p.Tyr85CysfsTer3 | |
| NM_005609.4:c.254_257del MANE Select | NP_005600.1:p.Tyr85CysfsTer3 |