Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72953471_72953472insTGAGGAGAGAACACTGG , CM000671.2:g.72953471_72953472insTGAGGAGAGAACACTGG | GRCh38 |
| NC_000009.11:g.75568387_75568388insTGAGGAGAGAACACTGG , CM000671.1:g.75568387_75568388insTGAGGAGAGAACACTGG | GRCh37 |
| NC_000009.10:g.74758207_74758208insTGAGGAGAGAACACTGG | NCBI36 |
| NG_012249.1:g.4586_4587insTGTTCTCTCCTCACCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419959.5:c.-14-454_-14-453insTGTTCTCTCCTCACCAG | ENSP00000388026.1:n.-14-454_-14-453insTGTTCTCTCCTCACCAG | |
| ENST00000446946.1:c.-14-454_-14-453insTGTTCTCTCCTCACCAG | ENSP00000401361.1:n.-14-454_-14-453insTGTTCTCTCCTCACCAG |