Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73367775_73367780del , CM000677.2:g.73367775_73367780del | GRCh38 |
| NC_000015.9:g.73660116_73660121del , CM000677.1:g.73660116_73660121del | GRCh37 |
| NC_000015.8:g.71447169_71447174del | NCBI36 |
| NG_009063.1:g.6492_6497del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.498_503del MANE Select | ENSP00000261917.3:p.Pro167_Pro168del | |
| ENST00000261917.3:c.498_503del | ENSP00000261917.3:p.Pro167_Pro168del | |
| NM_005477.2:c.498_503del | NP_005468.1:p.Pro167_Pro168del | |
| NM_005477.3:c.498_503del MANE Select | NP_005468.1:p.Pro167_Pro168del |