Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173540_173541delinsGA , CM000678.2:g.173540_173541delinsGA | GRCh38 |
| NC_000016.9:g.223539_223540delinsGA , CM000678.1:g.223539_223540delinsGA | GRCh37 |
| NC_000016.8:g.163539_163540delinsGA | NCBI36 |
| NG_000006.1:g.34403_34404delinsGA | |
| NG_059186.1:g.1890_1891delinsGA | |
| NG_059271.1:g.5694_5695delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.369_370delinsGA MANE Select | ENSP00000251595.6:p.His123_Ala124delinsGlnThr | |
| ENST00000251595.10:c.369_370delinsGA | ENSP00000251595.6:p.His123_Ala124delinsGlnThr | |
| ENST00000397806.1:c.273_274delinsGA | ENSP00000380908.1:p.His91_Ala92delinsGlnThr | |
| ENST00000482565.1:n.505_506delinsGA | ||
| NM_000517.4:c.369_370delinsGA | NP_000508.1:p.His123_Ala124delinsGlnThr | |
| NM_000517.6:c.369_370delinsGA MANE Select | NP_000508.1:p.His123_Ala124delinsGlnThr |