Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583292_41583293insGC , CM000679.2:g.41583292_41583293insGC | GRCh38 |
| NC_000017.10:g.39739544_39739545insGC , CM000679.1:g.39739544_39739545insGC | GRCh37 |
| NC_000017.9:g.36993070_36993071insGC | NCBI36 |
| NG_008624.1:g.8603_8604insGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000167586.7:c.1216_1217insGC MANE Select | ENSP00000167586.6:p.Thr406SerfsTer? | |
| ENST00000167586.6:c.1216_1217insGC | ENSP00000167586.6:p.Thr406SerfsTer? | |
| ENST00000441550.2:n.163_164insGC | ||
| ENST00000476662.1:n.666_667insGC | ||
| NM_000526.4:c.1216_1217insGC | NP_000517.2:p.Thr406SerfsTer? | |
| NM_000526.5:c.1216_1217insGC MANE Select | NP_000517.3:p.Thr406SerfsTer? |