Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23429267_23429269delinsCCA , CM000676.2:g.23429267_23429269delinsCCA | GRCh38 |
| NC_000014.8:g.23898476_23898478delinsCCA , CM000676.1:g.23898476_23898478delinsCCA | GRCh37 |
| NC_000014.7:g.22968316_22968318delinsCCA | NCBI36 |
| NG_007884.1:g.11393_11395delinsTGG , LRG_384:g.11393_11395delinsTGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.1217_1219delinsTGG MANE Select | ENSP00000347507.3:p.Val406= | |
| ENST00000355349.3:c.1217_1219delinsTGG | ENSP00000347507.3:p.Val406= | |
| NM_000257.3:c.1217_1219delinsTGG | NP_000248.2:p.Val406= | |
| XR_245686.3:n.1323_1325delinsTGG | ||
| XM_017021340.1:c.1217_1219delinsTGG | XP_016876829.1:p.Val406= | |
| NM_000257.4:c.1217_1219delinsTGG MANE Select | NP_000248.2:p.Val406= |