Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121626923_121626924delinsGT , CM000674.2:g.121626923_121626924delinsGT | GRCh38 |
| NC_000012.10:g.120549212_120549213delinsGT | NCBI36 |
| NG_007500.1:g.5349_5350delinsGT , LRG_93:g.5349_5350delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698901.1:n.415_416delinsGT | ||
| ENST00000617316.2:c.176_177delinsGT | ENSP00000482568.2:p.Ser59= | |
| ENST00000646827.1:n.374_375delinsGT | ||
| ENST00000611718.1:c.-14_-13delinsGT | ENSP00000477953.1:n.-14_-13delinsGT | |
| ENST00000616379.1:c.176_177delinsGT | ENSP00000480616.1:p.Ser59= | |
| ENST00000617316.1:c.-14_-13delinsGT | ENSP00000482568.1:n.-14_-13delinsGT | |
| NM_032790.3:c.176_177delinsGT , LRG_93t1:c.176_177delinsGT | NP_116179.2:p.Ser59= |