Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173493_173494delinsGT , CM000678.2:g.173493_173494delinsGT | GRCh38 |
| NC_000016.9:g.223492_223493delinsGT , CM000678.1:g.223492_223493delinsGT | GRCh37 |
| NC_000016.8:g.163492_163493delinsGT | NCBI36 |
| NG_000006.1:g.34356_34357delinsGT | |
| NG_059186.1:g.1843_1844delinsGT | |
| NG_059271.1:g.5647_5648delinsGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251595.11:c.322_323delinsGT MANE Select | ENSP00000251595.6:p.Val108= | |
| ENST00000251595.10:c.322_323delinsGT | ENSP00000251595.6:p.Val108= | |
| ENST00000397806.1:c.226_227delinsGT | ENSP00000380908.1:p.Val76= | |
| ENST00000482565.1:n.458_459delinsGT | ||
| NM_000517.4:c.322_323delinsGT | NP_000508.1:p.Val108= | |
| NM_000517.6:c.322_323delinsGT MANE Select | NP_000508.1:p.Val108= |