Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123942_72123962del , CM000679.2:g.72123942_72123962del | GRCh38 |
| NC_000017.10:g.70120083_70120103del , CM000679.1:g.70120083_70120103del | GRCh37 |
| NC_000017.9:g.67631678_67631698del | NCBI36 |
| NG_012490.1:g.7923_7943del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000346.4:c.1085_1105del MANE Select | NP_000337.1:p.Pro362_Gln368del |
| ENST00000245479.3:c.1085_1105del MANE Select | ENSP00000245479.2:p.Pro362_Gln368del |
| NM_000346.3:c.1085_1105del | NP_000337.1:p.Pro362_Gln368del |
| ENST00000245479.2:c.1085_1105del | ENSP00000245479.2:p.Pro362_Gln368del |