Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128946005_128946007delinsTCC , CM000671.2:g.128946005_128946007delinsTCC | GRCh38 |
| NC_000009.11:g.131708284_131708286delinsTCC , CM000671.1:g.131708284_131708286delinsTCC | GRCh37 |
| NC_000009.10:g.130748105_130748107delinsTCC | NCBI36 |
| NG_017009.1:g.6727_6729delinsGGA , LRG_744:g.6727_6729delinsGGA | |
| NG_033111.1:g.3313_3315delinsTCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372586.4:c.1297_1299delinsGGA MANE Select | ENSP00000361667.3:p.Gly433= | |
| ENST00000372586.3:c.1297_1299delinsGGA | ENSP00000361667.3:p.Gly433= | |
| ENST00000482796.1:c.39-3184_39-3182delinsTCC | ENSP00000417556.2:n.39-3184_39-3182delinsTCC | |
| NM_014908.3:c.1297_1299delinsGGA , LRG_744t1:c.1297_1299delinsGGA | NP_055723.1:p.Gly433= | |
| NM_014908.4:c.1297_1299delinsGGA MANE Select | NP_055723.1:p.Gly433= |