Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322633_73322637delinsGAGGC , CM000677.2:g.73322633_73322637delinsGAGGC | GRCh38 |
| NC_000015.9:g.73614974_73614978delinsGAGGC , CM000677.1:g.73614974_73614978delinsGAGGC | GRCh37 |
| NC_000015.8:g.71402027_71402031delinsGAGGC | NCBI36 |
| NG_009063.1:g.51628_51632delinsGCCTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3456_3460delinsGCCTC MANE Select | ENSP00000261917.3:p.Leu1152= | |
| ENST00000261917.3:c.3456_3460delinsGCCTC | ENSP00000261917.3:p.Leu1152= | |
| NM_005477.2:c.3456_3460delinsGCCTC | NP_005468.1:p.Leu1152= | |
| XM_011521148.1:c.2238_2242delinsGCCTC | XP_011519450.1:p.Leu746= | |
| XM_011521148.2:c.2238_2242delinsGCCTC | XP_011519450.1:p.Leu746= | |
| NM_005477.3:c.3456_3460delinsGCCTC MANE Select | NP_005468.1:p.Leu1152= |