Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583290_41583291delinsGC , CM000679.2:g.41583290_41583291delinsGC | GRCh38 |
| NC_000017.10:g.39739542_39739543delinsGC , CM000679.1:g.39739542_39739543delinsGC | GRCh37 |
| NC_000017.9:g.36993068_36993069delinsGC | NCBI36 |
| NG_008624.1:g.8605_8606delinsGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000167586.7:c.1218_1219delinsGC MANE Select | ENSP00000167586.6:p.Thr406= | |
| ENST00000167586.6:c.1218_1219delinsGC | ENSP00000167586.6:p.Thr406= | |
| ENST00000441550.2:n.165_166delinsGC | ||
| ENST00000476662.1:n.668_669delinsGC | ||
| NM_000526.4:c.1218_1219delinsGC | NP_000517.2:p.Thr406= | |
| NM_000526.5:c.1218_1219delinsGC MANE Select | NP_000517.3:p.Thr406= |