Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48408664_48408665insT , CM000677.2:g.48408664_48408665insT | GRCh38 |
| NC_000015.9:g.48700861_48700862insT , CM000677.1:g.48700861_48700862insT | GRCh37 |
| NC_000015.8:g.46488153_46488154insT | NCBI36 |
| NG_008805.2:g.242124_242125insA , LRG_778:g.242124_242125insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682170.1:n.5122_5123insA | ||
| ENST00000682767.1:n.4238_4239insA | ||
| ENST00000316623.10:c.*2325_*2326insA MANE Select | ENSP00000325527.5:n.*2325_*2326insA | |
| ENST00000316623.9:c.*2325_*2326insA | ENSP00000325527.5:n.*2325_*2326insA | |
| NM_000138.4:c.*2325_*2326insA , LRG_778t1:c.*2325_*2326insA | NP_000129.3:n.*2325_*2326insA | |
| NM_000138.5:c.*2325_*2326insA MANE Select | NP_000129.3:n.*2325_*2326insA |