Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173491_173492delinsTG , CM000678.2:g.173491_173492delinsTG | GRCh38 |
| NC_000016.9:g.223490_223491delinsTG , CM000678.1:g.223490_223491delinsTG | GRCh37 |
| NC_000016.8:g.163490_163491delinsTG | NCBI36 |
| NG_000006.1:g.34354_34355delinsTG | |
| NG_059186.1:g.1841_1842delinsTG | |
| NG_059271.1:g.5645_5646delinsTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251595.11:c.320_321delinsTG MANE Select | ENSP00000251595.6:p.Leu107= | |
| ENST00000251595.10:c.320_321delinsTG | ENSP00000251595.6:p.Leu107= | |
| ENST00000397806.1:c.224_225delinsTG | ENSP00000380908.1:p.Leu75= | |
| ENST00000482565.1:n.456_457delinsTG | ||
| NM_000517.4:c.320_321delinsTG | NP_000508.1:p.Leu107= | |
| NM_000517.6:c.320_321delinsTG MANE Select | NP_000508.1:p.Leu107= |