Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94042878_94042879insAC , CM000663.2:g.94042878_94042879insAC | GRCh38 |
| NC_000001.10:g.94508434_94508435insAC , CM000663.1:g.94508434_94508435insAC | GRCh37 |
| NC_000001.9:g.94281022_94281023insAC | NCBI36 |
| NG_009073.1:g.83271_83272insGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3210_3211insGT MANE Select | ENSP00000359245.3:p.Ser1071ValfsTer14 | |
| ENST00000370225.3:c.3210_3211insGT | ENSP00000359245.3:p.Ser1071ValfsTer14 | |
| ENST00000536513.5:c.-64-2790_-64-2789insGT | ENSP00000439707.2:n.-64-2790_-64-2789insGT | |
| NM_000350.2:c.3210_3211insGT | NP_000341.2:p.Ser1071ValfsTer14 | |
| NM_000350.3:c.3210_3211insGT MANE Select | NP_000341.2:p.Ser1071ValfsTer14 |