Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23559002_23559007delinsTGGAGC , CM000663.2:g.23559002_23559007delinsTGGAGC | GRCh38 |
| NC_000001.10:g.23885493_23885498delinsTGGAGC , CM000663.1:g.23885493_23885498delinsTGGAGC | GRCh37 |
| NC_000001.9:g.23758080_23758085delinsTGGAGC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374561.6:c.313_318delinsGCTCCA MANE Select | ENSP00000363689.5:p.Thr105Ala | |
| ENST00000374561.5:c.313_318delinsGCTCCA | ENSP00000363689.5:p.Thr105Ala | |
| ENST00000463312.1:n.69_74delinsGCTCCA | ||
| ENST00000486541.1:n.330_335delinsGCTCCA | ||
| NM_002167.4:c.313_318delinsGCTCCA | NP_002158.3:p.Thr105Ala | |
| NM_002167.5:c.313_318delinsGCTCCA MANE Select | NP_002158.3:p.Thr105Ala |