Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149980461_149980462delinsTG , CM000667.2:g.149980461_149980462delinsTG | GRCh38 |
| NC_000005.9:g.149360024_149360025delinsTG , CM000667.1:g.149360024_149360025delinsTG | GRCh37 |
| NC_000005.8:g.149340217_149340218delinsTG | NCBI36 |
| NG_007147.2:g.21579_21580delinsTG , LRG_684:g.21579_21580delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.868_869delinsTG MANE Select | ENSP00000286298.4:p.Trp290= | |
| ENST00000286298.4:c.868_869delinsTG | ENSP00000286298.4:p.Trp290= | |
| ENST00000503336.1:c.372+2110_372+2111delinsTG | ENSP00000426053.1:n.372+2110_372+2111delinsTG | |
| NM_000112.3:c.868_869delinsTG , LRG_684t1:c.868_869delinsTG | NP_000103.2:p.Trp290= | |
| XM_017009191.2:c.868_869delinsTG | XP_016864680.1:p.Trp290= | |
| NM_000112.4:c.868_869delinsTG MANE Select | NP_000103.2:p.Trp290= |