Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6077340_6077342del , CM000682.2:g.6077340_6077342del | GRCh38 |
| NC_000020.10:g.6057987_6057989del , CM000682.1:g.6057987_6057989del | GRCh37 |
| NC_000020.9:g.6005987_6005989del | NCBI36 |
| NG_016213.1:g.51205_51207del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699095.1:c.1867_1869del | ENSP00000514127.1:p.Ile623del | |
| ENST00000217289.9:c.1867_1869del MANE Select | ENSP00000217289.4:p.Ile623del | |
| ENST00000217289.8:c.1867_1869del | ENSP00000217289.4:p.Ile623del | |
| ENST00000478194.1:n.827_829del | ||
| ENST00000536936.1:c.1096_1098del | ENSP00000441063.1:p.Ile366del | |
| NM_017671.4:c.1867_1869del | NP_060141.3:p.Ile623del | |
| XM_024451935.1:c.1867_1869del | XP_024307703.1:p.Ile623del | |
| NM_017671.5:c.1867_1869del MANE Select | NP_060141.3:p.Ile623del |