Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118111371_118111375delinsAGGGG , CM000670.2:g.118111371_118111375delinsAGGGG | GRCh38 |
| NC_000008.10:g.119123610_119123614delinsAGGGG , CM000670.1:g.119123610_119123614delinsAGGGG | GRCh37 |
| NC_000008.9:g.119192791_119192795delinsAGGGG | NCBI36 |
| NG_007455.2:g.5445_5449delinsCCCCT , LRG_493:g.5445_5449delinsCCCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.-329_-325delinsCCCCT MANE Select | ENSP00000367446.3:n.-329_-325delinsCCCCT | |
| ENST00000378204.6:c.-329_-325delinsCCCCT | ENSP00000367446.2:n.-329_-325delinsCCCCT | |
| NM_000127.2:c.-329_-325delinsCCCCT , LRG_493t1:c.-329_-325delinsCCCCT | NP_000118.2:n.-329_-325delinsCCCCT | |
| NM_000127.3:c.-329_-325delinsCCCCT MANE Select | NP_000118.2:n.-329_-325delinsCCCCT |