Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981785_48981788delinsTTCC , CM000674.2:g.48981785_48981788delinsTTCC | GRCh38 |
| NC_000012.11:g.49375568_49375571delinsTTCC , CM000674.1:g.49375568_49375571delinsTTCC | GRCh37 |
| NC_000012.10:g.47661835_47661838delinsTTCC | NCBI36 |
| NG_033141.1:g.8333_8336delinsTTCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293549.4:c.*145_*148delinsTTCC MANE Select | ENSP00000293549.3:n.*145_*148delinsTTCC | |
| NM_005430.3:c.*145_*148delinsTTCC | NP_005421.1:n.*145_*148delinsTTCC | |
| NM_005430.4:c.*145_*148delinsTTCC MANE Select | NP_005421.1:n.*145_*148delinsTTCC |