Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27095692_27095694dup , CM000669.2:g.27095692_27095694dup | GRCh38 |
| NC_000007.13:g.27135311_27135313dup , CM000669.1:g.27135311_27135313dup | GRCh37 |
| NC_000007.12:g.27101836_27101838dup | NCBI36 |
| NG_011813.1:g.5315_5317dup | |
| NG_033087.1:g.4599_4601dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643460.2:c.221_223dup MANE Select | ENSP00000494260.2:p.His74_Pro75insHis | |
| ENST00000343060.4:c.221_223dup | ENSP00000343246.4:p.His74_Pro75insHis | |
| ENST00000355633.5:c.221_223dup | ENSP00000347851.5:p.His74_Pro75insHis | |
| NM_005522.4:c.221_223dup | NP_005513.1:p.His74_Pro75insHis | |
| NM_153620.2:c.221_223dup | NP_705873.2:p.His74_Pro75insHis | |
| NM_005522.5:c.221_223dup MANE Select | NP_005513.2:p.His74_Pro75insHis | |
| NM_153620.3:c.221_223dup | NP_705873.3:p.His74_Pro75insHis |