Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185143378_185143379delinsTG , CM000666.2:g.185143378_185143379delinsTG | GRCh38 |
| NC_000004.11:g.186064532_186064533delinsTG , CM000666.1:g.186064532_186064533delinsTG | GRCh37 |
| NC_000004.10:g.186301526_186301527delinsTG | NCBI36 |
| NG_013001.1:g.5116_5117delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.6_7delinsTG MANE Select | ENSP00000281456.5:p.Gly2= | |
| ENST00000281456.10:c.6_7delinsTG | ENSP00000281456.5:p.Gly2= | |
| ENST00000491736.1:c.6_7delinsTG | ENSP00000476711.1:p.Gly2= | |
| NM_001151.3:c.6_7delinsTG | NP_001142.2:p.Gly2= | |
| NM_001151.4:c.6_7delinsTG MANE Select | NP_001142.2:p.Gly2= |