Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73367785_73367802dup , CM000677.2:g.73367785_73367802dup | GRCh38 |
| NC_000015.9:g.73660126_73660143dup , CM000677.1:g.73660126_73660143dup | GRCh37 |
| NC_000015.8:g.71447179_71447196dup | NCBI36 |
| NG_009063.1:g.6469_6486dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.475_492dup MANE Select | ENSP00000261917.3:p.Ser164_Pro165insAlaGlnProAlaAlaSer | |
| ENST00000261917.3:c.475_492dup | ENSP00000261917.3:p.Ser164_Pro165insAlaGlnProAlaAlaSer | |
| NM_005477.2:c.475_492dup | NP_005468.1:p.Ser164_Pro165insAlaGlnProAlaAlaSer | |
| NM_005477.3:c.475_492dup MANE Select | NP_005468.1:p.Ser164_Pro165insAlaGlnProAlaAlaSer |