Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10612837_10612839delinsCCA , CM000670.2:g.10612837_10612839delinsCCA | GRCh38 |
| NC_000008.10:g.10470347_10470349delinsCCA , CM000670.1:g.10470347_10470349delinsCCA | GRCh37 |
| NC_000008.9:g.10507757_10507759delinsCCA | NCBI36 |
| NG_028035.1:g.47269_47271delinsTGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.1259_1261delinsTGG MANE Select | ENSP00000371923.3:p.Val420= | |
| ENST00000382483.3:c.1259_1261delinsTGG | ENSP00000371923.3:p.Val420= | |
| NM_178857.5:c.1259_1261delinsTGG | NP_849188.4:p.Val420= | |
| NM_178857.6:c.1259_1261delinsTGG MANE Select | NP_849188.4:p.Val420= |