Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64758690_64758700del , CM000673.2:g.64758690_64758700del | GRCh38 |
| NC_000011.9:g.64526162_64526172del , CM000673.1:g.64526162_64526172del | GRCh37 |
| NC_000011.8:g.64282738_64282748del | NCBI36 |
| NG_013018.1:g.7019_7029del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.251_261del MANE Select | ENSP00000164139.3:p.Tyr84PhefsTer23 | |
| ENST00000164139.3:c.251_261del | ENSP00000164139.3:p.Tyr84PhefsTer23 | |
| ENST00000377432.7:c.244-431_244-421del | ENSP00000366650.3:n.244-431_244-421del | |
| NM_001164716.1:c.244-431_244-421del | NP_001158188.1:n.244-431_244-421del | |
| NM_005609.2:c.251_261del | NP_005600.1:p.Tyr84PhefsTer23 | |
| NM_005609.3:c.251_261del | NP_005600.1:p.Tyr84PhefsTer23 | |
| NM_005609.4:c.251_261del MANE Select | NP_005600.1:p.Tyr84PhefsTer23 |