Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966107_37966108insG , CM000670.2:g.37966107_37966108insG | GRCh38 |
| NC_000008.10:g.37823625_37823626insG , CM000670.1:g.37823625_37823626insG | GRCh37 |
| NC_000008.9:g.37942782_37942783insG | NCBI36 |
| NG_011936.1:g.5559_5560insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.362_363insC MANE Select | ENSP00000343782.3:p.Thr122AspfsTer? | |
| ENST00000520341.2:n.490_491insC | ||
| ENST00000345060.4:c.362_363insC | ENSP00000343782.3:p.Thr122AspfsTer? | |
| ENST00000614635.1:c.362_363insC | ENSP00000480325.1:p.Thr122AspfsTer? | |
| NM_000025.2:c.362_363insC | NP_000016.1:p.Thr122AspfsTer? | |
| NM_000025.3:c.362_363insC MANE Select | NP_000016.1:p.Thr122AspfsTer? |