Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001931_94001932delinsGT , CM000663.2:g.94001931_94001932delinsGT | GRCh38 |
| NC_000001.10:g.94467487_94467488delinsGT , CM000663.1:g.94467487_94467488delinsGT | GRCh37 |
| NC_000001.9:g.94240075_94240076delinsGT | NCBI36 |
| NG_009073.1:g.124218_124219delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6208_6209delinsAC MANE Select | ENSP00000359245.3:p.Thr2070= | |
| ENST00000370225.3:c.6208_6209delinsAC | ENSP00000359245.3:p.Thr2070= | |
| ENST00000465352.1:n.624_625delinsAC | ||
| ENST00000536513.5:c.2584_2585delinsAC | ENSP00000439707.2:p.Thr862= | |
| NM_000350.2:c.6208_6209delinsAC | NP_000341.2:p.Thr2070= | |
| NM_000350.3:c.6208_6209delinsAC MANE Select | NP_000341.2:p.Thr2070= |