Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320649_119320650delinsCA , CM000666.2:g.119320649_119320650delinsCA | GRCh38 |
| NC_000004.11:g.120241804_120241805delinsCA , CM000666.1:g.120241804_120241805delinsCA | GRCh37 |
| NC_000004.10:g.120461252_120461253delinsCA | NCBI36 |
| NG_011444.1:g.6512_6513delinsTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274024.4:c.240+20_240+21delinsTG MANE Select | ENSP00000274024.3:n.240+20_240+21delinsTG... | |
| ENST00000274024.3:c.240+20_240+21delinsTG | ENSP00000274024.3:n.240+20_240+21delinsTG... | |
| NM_000134.3:c.240+20_240+21delinsTG | NP_000125.2:n.240+20_240+21delinsTG | |
| NM_000134.4:c.240+20_240+21delinsTG MANE Select | NP_000125.2:n.240+20_240+21delinsTG |