Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612360_41612372del , CM000679.2:g.41612360_41612372del | GRCh38 |
| NC_000017.10:g.39768612_39768624del , CM000679.1:g.39768612_39768624del | GRCh37 |
| NC_000017.9:g.37022138_37022150del | NCBI36 |
| NG_008301.1:g.5457_5469del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.318_330del MANE Select | ENSP00000301653.3:p.Phe106LeufsTer10 | |
| ENST00000301653.8:c.318_330del | ENSP00000301653.3:p.Phe106LeufsTer10 | |
| ENST00000588319.1:n.395_407del | ||
| ENST00000593067.1:c.-312-85_-312-73del | ENSP00000467124.1:n.-312-85_-312-73del | |
| NM_005557.3:c.318_330del | NP_005548.2:p.Phe106LeufsTer10 | |
| NM_005557.4:c.318_330del MANE Select | NP_005548.2:p.Phe106LeufsTer10 |