Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27095691_27095697delinsGTGGCGA , CM000669.2:g.27095691_27095697delinsGTGGCGA | GRCh38 |
| NC_000007.13:g.27135310_27135316delinsGTGGCGA , CM000669.1:g.27135310_27135316delinsGTGGCGA | GRCh37 |
| NC_000007.12:g.27101835_27101841delinsGTGGCGA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000643460.2:c.216_222delinsTCGCCAC MANE Select | ENSP00000494260.2:p.His72= | |
| ENST00000343060.4:c.216_222delinsTCGCCAC | ENSP00000343246.4:p.His72= | |
| ENST00000355633.5:c.216_222delinsTCGCCAC | ENSP00000347851.5:p.His72= | |
| NM_005522.5:c.216_222delinsTCGCCAC MANE Select | NP_005513.2:p.His72= | |
| NM_153620.3:c.216_222delinsTCGCCAC | NP_705873.3:p.His72= |