Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73367767_73367770delinsGGGC , CM000677.2:g.73367767_73367770delinsGGGC | GRCh38 |
| NC_000015.9:g.73660108_73660111delinsGGGC , CM000677.1:g.73660108_73660111delinsGGGC | GRCh37 |
| NC_000015.8:g.71447161_71447164delinsGGGC | NCBI36 |
| NG_009063.1:g.6495_6498delinsGCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.501_504delinsGCCC MANE Select | ENSP00000261917.3:p.Pro167= | |
| ENST00000261917.3:c.501_504delinsGCCC | ENSP00000261917.3:p.Pro167= | |
| NM_005477.2:c.501_504delinsGCCC | NP_005468.1:p.Pro167= | |
| NM_005477.3:c.501_504delinsGCCC MANE Select | NP_005468.1:p.Pro167= |