Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94008289_94008290delinsCA , CM000663.2:g.94008289_94008290delinsCA | GRCh38 |
| NC_000001.10:g.94473845_94473846delinsCA , CM000663.1:g.94473845_94473846delinsCA | GRCh37 |
| NC_000001.9:g.94246433_94246434delinsCA | NCBI36 |
| NG_009073.1:g.117860_117861delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.5843_5844delinsTG MANE Select | NP_000341.2:p.Pro1948Leu |
| ENST00000370225.4:c.5843_5844delinsTG MANE Select | ENSP00000359245.3:p.Pro1948Leu |
| NM_000350.2:c.5843_5844delinsTG | NP_000341.2:p.Pro1948Leu |
| ENST00000370225.3:c.5843_5844delinsTG | ENSP00000359245.3:p.Pro1948Leu |
| ENST00000465352.1:n.259_260delinsTG | |
| ENST00000536513.5:c.2219_2220delinsTG | ENSP00000439707.2:p.Pro740Leu |