Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154928672dup , CM000685.2:g.154928672dup | GRCh38 |
| NC_000023.10:g.154156947dup , CM000685.1:g.154156947dup | GRCh37 |
| NC_000023.9:g.153810141dup | NCBI36 |
| NG_011403.1:g.99056dup | |
| NG_011403.2:g.99056dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5122dup MANE Select | ENSP00000353393.4:p.Arg1708ProfsTer25 | |
| ENST00000360256.8:c.5122dup | ENSP00000353393.4:p.Arg1708ProfsTer25 | |
| NM_000132.3:c.5122dup | NP_000123.1:p.Arg1708ProfsTer25 | |
| XM_011531126.1:c.5017dup | XP_011529428.1:p.Arg1673ProfsTer25 | |
| NM_000132.4:c.5122dup MANE Select | NP_000123.1:p.Arg1708ProfsTer25 |