Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169541912_169541913insCCATAATCAGAATTCCTC , CM000663.2:g.169541912_169541913insCCATAATCAGAATTCCTC | GRCh38 |
| NC_000001.10:g.169511150_169511151insCCATAATCAGAATTCCTC , CM000663.1:g.169511150_169511151insCCATAATCAGAATTCCTC | GRCh37 |
| NC_000001.9:g.167777774_167777775insCCATAATCAGAATTCCTC | NCBI36 |
| NG_011806.1:g.49619_49620insGAGGAATTCTGATTATGG , LRG_553:g.49619_49620insGAGGAATTCTGATTATGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367797.9:c.3177_3178insGAGGAATTCTGATTATGG | ||
| ENST00000367796.3:c.3192_3193insGAGGAATTCTGATTATGG | ||
| ENST00000367797.7:c.3177_3178insGAGGAATTCTGATTATGG | ||
| NM_000130.4:c.3177_3178insGAGGAATTCTGATTATGG , LRG_553t1:c.3177_3178insGAGGAATTCTGATTATGG | ||
| XM_017000660.2:c.2766_2767insGAGGAATTCTGATTATGG | ||
| NM_000130.5:c.3177_3178insGAGGAATTCTGATTATGG |