Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215867242_215867243insACG , CM000663.2:g.215867242_215867243insACG | GRCh38 |
| NC_000001.10:g.216040584_216040585insACG , CM000663.1:g.216040584_216040585insACG | GRCh37 |
| NC_000001.9:g.214107207_214107208insACG | NCBI36 |
| NG_009497.1:g.561154_561155insCGT | |
| NG_009497.2:g.561206_561207insCGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.8682-73_8682-72insCGT MANE Select | ENSP00000305941.3:n.8682-73_8682-72insCGT | |
| ENST00000674083.1:c.8682-73_8682-72insCGT | ENSP00000501296.1:n.8682-73_8682-72insCGT | |
| ENST00000307340.7:c.8682-73_8682-72insCGT | ENSP00000305941.3:n.8682-73_8682-72insCGT | |
| NM_206933.2:c.8682-73_8682-72insCGT | NP_996816.2:n.8682-73_8682-72insCGT | |
| NM_206933.3:c.8682-73_8682-72insCGT | NP_996816.2:n.8682-73_8682-72insCGT | |
| NM_206933.4:c.8682-73_8682-72insCGT MANE Select | NP_996816.3:n.8682-73_8682-72insCGT |