Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72953471_72953472insTGAGGAGAGAATCCTGG , CM000671.2:g.72953471_72953472insTGAGGAGAGAATCCTGG | GRCh38 |
| NC_000009.11:g.75568387_75568388insTGAGGAGAGAATCCTGG , CM000671.1:g.75568387_75568388insTGAGGAGAGAATCCTGG | GRCh37 |
| NC_000009.10:g.74758207_74758208insTGAGGAGAGAATCCTGG | NCBI36 |
| NG_012249.1:g.4586_4587insGATTCTCTCCTCACCAG |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000419959.5:c.-14-454_-14-453insGATTCTCTCCTCACCAG | ENSP00000388026.1:n.-14-454_-14-453insGATTCTCTCCTCACCAG |
| ENST00000446946.1:c.-14-454_-14-453insGATTCTCTCCTCACCAG | ENSP00000401361.1:n.-14-454_-14-453insGATTCTCTCCTCACCAG |