Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320520_119320522delinsAAT , CM000666.2:g.119320520_119320522delinsAAT | GRCh38 |
| NC_000004.11:g.120241675_120241677delinsAAT , CM000666.1:g.120241675_120241677delinsAAT | GRCh37 |
| NC_000004.10:g.120461123_120461125delinsAAT | NCBI36 |
| NG_011444.1:g.6640_6642delinsATT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.240+148_240+150delinsATT MANE Select | ENSP00000274024.3:n.240+148_240+150delinsATT | |
| ENST00000274024.3:c.240+148_240+150delinsATT | ENSP00000274024.3:n.240+148_240+150delinsATT | |
| NM_000134.3:c.240+148_240+150delinsATT | NP_000125.2:n.240+148_240+150delinsATT | |
| NM_000134.4:c.240+148_240+150delinsATT MANE Select | NP_000125.2:n.240+148_240+150delinsATT |