Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.234609203_234609204insTTG , CM000663.2:g.234609203_234609204insTTG | GRCh38 |
| NC_000001.10:g.234744949_234744950insTTG , CM000663.1:g.234744949_234744950insTTG | GRCh37 |
| NC_000001.9:g.232811572_232811573insTTG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366609.4:c.293_294insACA MANE Select | ENSP00000355568.3:p.Gln98_Leu99insGln | |
| ENST00000366609.3:c.293_294insACA | ENSP00000355568.3:p.Gln98_Leu99insGln | |
| ENST00000366610.7:c.293_294insACA | ENSP00000355569.3:p.Gln98_Leu99insGln | |
| NM_001077397.1:c.293_294insACA | NP_001070865.1:p.Gln98_Leu99insGln | |
| NM_182972.2:c.293_294insACA | NP_892017.2:p.Gln98_Leu99insGln | |
| NM_182972.3:c.293_294insACA MANE Select | NP_892017.2:p.Gln98_Leu99insGln |