Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_012920.1:m.4085_4086insTCCTAGGAAGATTGTAGTGGTGAGGGTGTTTATTATAATAATGTTTGTGTATTCGGCTATGAAGAATAGGGCGAAGGGGCCTGCGG , J01415.2:m.4085_4086insTCCTAGGAAGATTGTAGTGGTGAGGGTGTTTATTATAATAATGTTTGTGTATTCGGCTATGAAGAATAGGGCGAAGGGGCCTGCGG | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361390.2:c.779_780insTCCTAGGAAGATTGTAGTGGTGAGGGTGTTTATTATAATAATGTTTGTGTATTCGGCTATGAAGAATAGGGCGAAGGGGCCTGCGG | ENSP00000354687.2:p.Thr261ProfsTer35 |