Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80275136_80275137insGTG , CM000672.2:g.80275136_80275137insGTG | GRCh38 |
| NC_000010.10:g.82034892_82034893insGTG , CM000672.1:g.82034892_82034893insGTG | GRCh37 |
| NC_000010.9:g.82024872_82024873insGTG | NCBI36 |
| NG_008083.1:g.19542_19543insCAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.831_832insCAC MANE Select | ENSP00000361287.3:p.His277_Gly278insHis | |
| ENST00000372213.7:c.831_832insCAC | ENSP00000361287.3:p.His277_Gly278insHis | |
| ENST00000480845.1:n.63_64insCAC | ||
| ENST00000485270.5:n.343_344insCAC | ||
| NM_000429.2:c.831_832insCAC | NP_000420.1:p.His277_Gly278insHis | |
| XM_005269842.3:c.831_832insCAC | XP_005269899.1:p.His277_Gly278insHis | |
| XM_005269843.3:c.708_709insCAC | XP_005269900.1:p.His236_Gly237insHis | |
| NM_000429.3:c.831_832insCAC MANE Select | NP_000420.1:p.His277_Gly278insHis |