Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192812260_192812264delinsGATAA , CM000663.2:g.192812260_192812264delinsGATAA | GRCh38 |
| NC_000001.10:g.192781390_192781394delinsGATAA , CM000663.1:g.192781390_192781394delinsGATAA | GRCh37 |
| NC_000001.9:g.191048013_191048017delinsGATAA | NCBI36 |
| NG_012800.1:g.8222_8226delinsGATAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235382.7:c.*664_*668delinsGATAA MANE Select | ENSP00000235382.5:n.*664_*668delinsGATAA | |
| ENST00000235382.6:c.*664_*668delinsGATAA | ENSP00000235382.5:n.*664_*668delinsGATAA | |
| NM_002923.3:c.*664_*668delinsGATAA | NP_002914.1:n.*664_*668delinsGATAA | |
| NM_002923.4:c.*664_*668delinsGATAA MANE Select | NP_002914.1:n.*664_*668delinsGATAA |