Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.234609214_234609216dup , CM000663.2:g.234609214_234609216dup | GRCh38 |
| NC_000001.10:g.234744960_234744962dup , CM000663.1:g.234744960_234744962dup | GRCh37 |
| NC_000001.9:g.232811583_232811585dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366609.4:c.293_295dup MANE Select | ENSP00000355568.3:p.Gln98_Leu99insGln | |
| ENST00000366609.3:c.293_295dup | ENSP00000355568.3:p.Gln98_Leu99insGln | |
| ENST00000366610.7:c.293_295dup | ENSP00000355569.3:p.Gln98_Leu99insGln | |
| NM_001077397.1:c.293_295dup | NP_001070865.1:p.Gln98_Leu99insGln | |
| NM_182972.2:c.293_295dup | NP_892017.2:p.Gln98_Leu99insGln | |
| NM_182972.3:c.293_295dup MANE Select | NP_892017.2:p.Gln98_Leu99insGln |