Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215867264_215867265insAC , CM000663.2:g.215867264_215867265insAC | GRCh38 |
| NC_000001.10:g.216040606_216040607insAC , CM000663.1:g.216040606_216040607insAC | GRCh37 |
| NC_000001.9:g.214107229_214107230insAC | NCBI36 |
| NG_009497.1:g.561132_561133insGT | |
| NG_009497.2:g.561184_561185insGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.8682-95_8682-94insGT MANE Select | ENSP00000305941.3:n.8682-95_8682-94insGT | |
| ENST00000674083.1:c.8682-95_8682-94insGT | ENSP00000501296.1:n.8682-95_8682-94insGT | |
| ENST00000307340.7:c.8682-95_8682-94insGT | ENSP00000305941.3:n.8682-95_8682-94insGT | |
| NM_206933.2:c.8682-95_8682-94insGT | NP_996816.2:n.8682-95_8682-94insGT | |
| NM_206933.3:c.8682-95_8682-94insGT | NP_996816.2:n.8682-95_8682-94insGT | |
| NM_206933.4:c.8682-95_8682-94insGT MANE Select | NP_996816.3:n.8682-95_8682-94insGT |