Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94842865_94842866delinsTG , CM000672.2:g.94842865_94842866delinsTG | GRCh38 |
| NG_008384.2:g.85160_85161delinsTG | |
| NG_008384.3:g.85185_85186delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000769.4:c.990_991delinsTG MANE Select | NP_000760.1:p.Ile331Val |
| ENST00000371321.9:c.990_991delinsTG MANE Select | ENSP00000360372.3:p.Ile331Val |
| NM_000769.2:c.990_991delinsTG | NP_000760.1:p.Ile331Val |
| ENST00000371321.7:c.990_991delinsTG | ENSP00000360372.3:p.Ile331Val |
| ENST00000464755.1:c.1753_1754delinsTG | ENSP00000483243.1:n.1753_1754delinsTG |
| ENST00000645461.1:n.1901_1902delinsTG |