Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610033_1610034insCCCCCCCTC , CM000668.2:g.1610033_1610034insCCCCCCCTC | GRCh38 |
| NC_000006.11:g.1610268_1610269insCCCCCCCTC , CM000668.1:g.1610268_1610269insCCCCCCCTC | GRCh37 |
| NC_000006.10:g.1555267_1555268insCCCCCCCTC | NCBI36 |
| NG_009368.1:g.4588_4589insCCCCCCCTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.-413_-412insCCCCCCCTC MANE Select | ENSP00000493906.1:n.-413_-412insCCCCCCCTC | |
| ENST00000380874.3:c.-413_-412insCCCCCCCTC | ENSP00000370256.2:n.-413_-412insCCCCCCCTC | |
| NM_001453.3:c.-413_-412insCCCCCCCTC MANE Select | NP_001444.2:n.-413_-412insCCCCCCCTC |