Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322712_73322714del , CM000677.2:g.73322712_73322714del | GRCh38 |
| NC_000015.9:g.73615053_73615055del , CM000677.1:g.73615053_73615055del | GRCh37 |
| NC_000015.8:g.71402106_71402108del | NCBI36 |
| NG_009063.1:g.51553_51555del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3381_3383del MANE Select | ENSP00000261917.3:p.Gly1128del | |
| ENST00000261917.3:c.3381_3383del | ENSP00000261917.3:p.Gly1128del | |
| NM_005477.2:c.3381_3383del | NP_005468.1:p.Gly1128del | |
| XM_011521148.1:c.2163_2165del | XP_011519450.1:p.Gly722del | |
| XM_011521148.2:c.2163_2165del | XP_011519450.1:p.Gly722del | |
| NM_005477.3:c.3381_3383del MANE Select | NP_005468.1:p.Gly1128del |