Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25012987_25012993delinsGGTGAAC , CM000685.2:g.25012987_25012993delinsGGTGAAC | GRCh38 |
| NC_000023.10:g.25031104_25031110delinsGGTGAAC , CM000685.1:g.25031104_25031110delinsGGTGAAC | GRCh37 |
| NC_000023.9:g.24941025_24941031delinsGGTGAAC | NCBI36 |
| NG_008281.1:g.7956_7962delinsGTTCACC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1002_1008delinsGTTCACC MANE Select | ENSP00000368332.4:p.Thr334= | |
| ENST00000379044.4:c.1002_1008delinsGTTCACC | ENSP00000368332.4:p.Thr334= | |
| NM_139058.2:c.1002_1008delinsGTTCACC | NP_620689.1:p.Thr334= | |
| NM_139058.3:c.1002_1008delinsGTTCACC MANE Select | NP_620689.1:p.Thr334= |