Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73367777_73367784dup , CM000677.2:g.73367777_73367784dup | GRCh38 |
| NC_000015.9:g.73660118_73660125dup , CM000677.1:g.73660118_73660125dup | GRCh37 |
| NC_000015.8:g.71447171_71447178dup | NCBI36 |
| NG_009063.1:g.6484_6491dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.490_497dup MANE Select | ENSP00000261917.3:p.Pro167ArgfsTer? | |
| ENST00000261917.3:c.490_497dup | ENSP00000261917.3:p.Pro167ArgfsTer? | |
| NM_005477.2:c.490_497dup | NP_005468.1:p.Pro167ArgfsTer? | |
| NM_005477.3:c.490_497dup MANE Select | NP_005468.1:p.Pro167ArgfsTer? |