Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64747262del , CM000673.2:g.64747262del | GRCh38 |
| NC_000011.9:g.64514734del , CM000673.1:g.64514734del | GRCh37 |
| NC_000011.8:g.64271310del | NCBI36 |
| NG_007574.1:g.3195del , LRG_100:g.3195del | |
| NG_013018.1:g.18454del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.2274del MANE Select | ENSP00000164139.3:p.Phe759SerfsTer? | |
| ENST00000164139.3:c.2274del | ENSP00000164139.3:p.Phe759SerfsTer? | |
| ENST00000377432.7:c.2010del | ENSP00000366650.3:p.Phe671SerfsTer? | |
| ENST00000483742.1:n.1627del | ||
| NM_001164716.1:c.2010del | NP_001158188.1:p.Phe671SerfsTer? | |
| NM_005609.2:c.2274del | NP_005600.1:p.Phe759SerfsTer? | |
| NM_005609.3:c.2274del | NP_005600.1:p.Phe759SerfsTer? | |
| NM_005609.4:c.2274del MANE Select | NP_005600.1:p.Phe759SerfsTer? |