Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154903949dup , CM000685.2:g.154903949dup | GRCh38 |
| NC_000023.10:g.154132224dup , CM000685.1:g.154132224dup | GRCh37 |
| NC_000023.9:g.153785418dup | NCBI36 |
| NG_011403.1:g.123781dup | |
| NG_011403.2:g.123781dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5961dup MANE Select | ENSP00000353393.4:p.Glu1988ArgfsTer4 | |
| ENST00000360256.8:c.5961dup | ENSP00000353393.4:p.Glu1988ArgfsTer4 | |
| NM_000132.3:c.5961dup | NP_000123.1:p.Glu1988ArgfsTer4 | |
| XM_011531126.1:c.5856dup | XP_011529428.1:p.Glu1953ArgfsTer4 | |
| NM_000132.4:c.5961dup MANE Select | NP_000123.1:p.Glu1988ArgfsTer4 |