Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100883371_100883372delinsCA , CM000676.2:g.100883371_100883372delinsCA | GRCh38 |
| NC_000014.8:g.101349708_101349709delinsCA , CM000676.1:g.101349708_101349709delinsCA | GRCh37 |
| NC_000014.7:g.100419461_100419462delinsCA | NCBI36 |
| NG_045001.1:g.6476_6477delinsTG | |
| NG_045000.5:g.52103_52104delinsCA | |
| NG_045000.6:g.52103_52104delinsCA | |
| NG_045001.2:g.25351_25352delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649591.1:c.1417_1418delinsTG MANE Select | ENSP00000497482.1:p.Trp473= | |
| ENST00000534062.1:c.1417_1418delinsTG | ENSP00000435342.1:p.Trp473= | |
| NM_001134888.2:c.1417_1418delinsTG | NP_001128360.1:p.Trp473= | |
| NM_001134888.3:c.1417_1418delinsTG MANE Select | NP_001128360.1:p.Trp473= |