Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68670634_68670635delinsTG , CM000666.2:g.68670634_68670635delinsTG | GRCh38 |
| NC_000004.11:g.69536352_69536353delinsTG , CM000666.1:g.69536352_69536353delinsTG | GRCh37 |
| NC_000004.10:g.69218947_69218948delinsTG | NCBI36 |
| NG_052676.1:g.5142_5143delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.-17_-16delinsCA MANE Select | ENSP00000341045.5:n.-17_-16delinsCA | |
| NM_001076.3:c.-17_-16delinsCA | NP_001067.2:n.-17_-16delinsCA | |
| NM_001076.4:c.-17_-16delinsCA MANE Select | NP_001067.2:n.-17_-16delinsCA |