Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215867185_215867186insAGA , CM000663.2:g.215867185_215867186insAGA | GRCh38 |
| NC_000001.10:g.216040527_216040528insAGA , CM000663.1:g.216040527_216040528insAGA | GRCh37 |
| NC_000001.9:g.214107150_214107151insAGA | NCBI36 |
| NG_009497.1:g.561211_561212insTCT | |
| NG_009497.2:g.561263_561264insTCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.8682-16_8682-15insTCT MANE Select | ENSP00000305941.3:n.8682-16_8682-15insTCT | |
| ENST00000674083.1:c.8682-16_8682-15insTCT | ENSP00000501296.1:n.8682-16_8682-15insTCT | |
| ENST00000307340.7:c.8682-16_8682-15insTCT | ENSP00000305941.3:n.8682-16_8682-15insTCT | |
| NM_206933.2:c.8682-16_8682-15insTCT | NP_996816.2:n.8682-16_8682-15insTCT | |
| NM_206933.3:c.8682-16_8682-15insTCT | NP_996816.2:n.8682-16_8682-15insTCT | |
| NM_206933.4:c.8682-16_8682-15insTCT MANE Select | NP_996816.3:n.8682-16_8682-15insTCT |