Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215867223_215867224insAGC , CM000663.2:g.215867223_215867224insAGC | GRCh38 |
| NC_000001.10:g.216040565_216040566insAGC , CM000663.1:g.216040565_216040566insAGC | GRCh37 |
| NC_000001.9:g.214107188_214107189insAGC | NCBI36 |
| NG_009497.1:g.561173_561174insGCT | |
| NG_009497.2:g.561225_561226insGCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.8682-54_8682-53insGCT MANE Select | ENSP00000305941.3:n.8682-54_8682-53insGCT | |
| ENST00000674083.1:c.8682-54_8682-53insGCT | ENSP00000501296.1:n.8682-54_8682-53insGCT | |
| ENST00000307340.7:c.8682-54_8682-53insGCT | ENSP00000305941.3:n.8682-54_8682-53insGCT | |
| NM_206933.2:c.8682-54_8682-53insGCT | NP_996816.2:n.8682-54_8682-53insGCT | |
| NM_206933.3:c.8682-54_8682-53insGCT | NP_996816.2:n.8682-54_8682-53insGCT | |
| NM_206933.4:c.8682-54_8682-53insGCT MANE Select | NP_996816.3:n.8682-54_8682-53insGCT |