Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.93997884_93997885insG , CM000663.2:g.93997884_93997885insG | GRCh38 |
| NC_000001.10:g.94463440_94463441insG , CM000663.1:g.94463440_94463441insG | GRCh37 |
| NC_000001.9:g.94236028_94236029insG | NCBI36 |
| NG_009073.1:g.128265_128266insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6705_6706insC MANE Select | ENSP00000359245.3:p.Val2236ArgfsTer15 | |
| ENST00000370225.3:c.6705_6706insC | ENSP00000359245.3:p.Val2236ArgfsTer15 | |
| ENST00000536513.5:c.3081_3082insC | ENSP00000439707.2:p.Val1028ArgfsTer15 | |
| NM_000350.2:c.6705_6706insC | NP_000341.2:p.Val2236ArgfsTer15 | |
| NM_000350.3:c.6705_6706insC MANE Select | NP_000341.2:p.Val2236ArgfsTer15 |