Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73367778_73367780dup , CM000677.2:g.73367778_73367780dup | GRCh38 |
| NC_000015.9:g.73660119_73660121dup , CM000677.1:g.73660119_73660121dup | GRCh37 |
| NC_000015.8:g.71447172_71447174dup | NCBI36 |
| NG_009063.1:g.6495_6497dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.501_503dup MANE Select | ENSP00000261917.3:p.Pro168_Gln169insPro | |
| ENST00000261917.3:c.501_503dup | ENSP00000261917.3:p.Pro168_Gln169insPro | |
| NM_005477.2:c.501_503dup | NP_005468.1:p.Pro168_Gln169insPro | |
| NM_005477.3:c.501_503dup MANE Select | NP_005468.1:p.Pro168_Gln169insPro |