Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73367772_73367773delinsTA , CM000677.2:g.73367772_73367773delinsTA | GRCh38 |
| NC_000015.9:g.73660113_73660114delinsTA , CM000677.1:g.73660113_73660114delinsTA | GRCh37 |
| NC_000015.8:g.71447166_71447167delinsTA | NCBI36 |
| NG_009063.1:g.6492_6493delinsTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.498_499delinsTA MANE Select | ENSP00000261917.3:p.Pro167Thr | |
| ENST00000261917.3:c.498_499delinsTA | ENSP00000261917.3:p.Pro167Thr | |
| NM_005477.2:c.498_499delinsTA | NP_005468.1:p.Pro167Thr | |
| NM_005477.3:c.498_499delinsTA MANE Select | NP_005468.1:p.Pro167Thr |