Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27095689_27095701delinsGGGTGGCGATGGT , CM000669.2:g.27095689_27095701delinsGGGTGGCGATGGT | GRCh38 |
| NC_000007.13:g.27135308_27135320delinsGGGTGGCGATGGT , CM000669.1:g.27135308_27135320delinsGGGTGGCGATGGT | GRCh37 |
| NC_000007.12:g.27101833_27101845delinsGGGTGGCGATGGT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643460.2:c.212_224delinsACCATCGCCACCC MANE Select | ENSP00000494260.2:p.His71= | |
| ENST00000343060.4:c.212_224delinsACCATCGCCACCC | ENSP00000343246.4:p.His71= | |
| ENST00000355633.5:c.212_224delinsACCATCGCCACCC | ENSP00000347851.5:p.His71= | |
| NM_005522.5:c.212_224delinsACCATCGCCACCC MANE Select | NP_005513.2:p.His71= | |
| NM_153620.3:c.212_224delinsACCATCGCCACCC | NP_705873.3:p.His71= |