Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21176842_21176846delinsTTTAA , CM000674.2:g.21176842_21176846delinsTTTAA | GRCh38 |
| NC_000012.11:g.21329776_21329780delinsTTTAA , CM000674.1:g.21329776_21329780delinsTTTAA | GRCh37 |
| NC_000012.10:g.21221043_21221047delinsTTTAA | NCBI36 |
| NG_011745.1:g.50649_50653delinsTTTAA , LRG_1022:g.50649_50653delinsTTTAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.426_430delinsTTTAA MANE Select | ENSP00000256958.2:p.Cys142= | |
| ENST00000256958.2:c.426_430delinsTTTAA | ENSP00000256958.2:p.Cys142= | |
| ENST00000543498.5:c.492_496delinsTTTAA | ||
| NM_006446.4:c.426_430delinsTTTAA , LRG_1022t1:c.426_430delinsTTTAA | NP_006437.3:p.Cys142= | |
| NM_006446.5:c.426_430delinsTTTAA MANE Select | NP_006437.3:p.Cys142= |