Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38146095_38146096insA , CM000670.2:g.38146095_38146096insA | GRCh38 |
| NC_000008.10:g.38003613_38003614insA , CM000670.1:g.38003613_38003614insA | GRCh37 |
| NC_000008.9:g.38122770_38122771insA | NCBI36 |
| NG_011827.1:g.9987_9988insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.517_518insT MANE Select | ENSP00000276449.3:p.Glu173ValfsTer11 | |
| ENST00000276449.8:c.517_518insT | ENSP00000276449.3:p.Glu173ValfsTer11 | |
| ENST00000520114.1:n.1004_1005insT | ||
| ENST00000522050.1:c.453_454insT | ||
| NM_000349.2:c.517_518insT | NP_000340.2:p.Glu173ValfsTer11 | |
| XM_006716392.1:c.517_518insT | XP_006716455.1:p.Glu173ValfsTer11 | |
| NM_000349.3:c.517_518insT MANE Select | NP_000340.2:p.Glu173ValfsTer11 |