Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100882732_100882733insCA , CM000676.2:g.100882732_100882733insCA | GRCh38 |
| NC_000014.8:g.101349069_101349070insCA , CM000676.1:g.101349069_101349070insCA | GRCh37 |
| NC_000014.7:g.100418822_100418823insCA | NCBI36 |
| NG_045001.1:g.7115_7116insTG | |
| NG_045000.5:g.51464_51465insCA | |
| NG_045000.6:g.51464_51465insCA | |
| NG_045001.2:g.25990_25991insTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649591.1:c.2056_2057insTG MANE Select | ENSP00000497482.1:p.Trp686LeufsTer13 | |
| ENST00000534062.1:c.2056_2057insTG | ENSP00000435342.1:p.Trp686LeufsTer13 | |
| NM_001134888.2:c.2056_2057insTG | NP_001128360.1:p.Trp686LeufsTer13 | |
| NM_001134888.3:c.2056_2057insTG MANE Select | NP_001128360.1:p.Trp686LeufsTer13 |