Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177078_177087delinsCCGCCCTGAG , CM000678.2:g.177078_177087delinsCCGCCCTGAG | GRCh38 |
| NC_000016.9:g.227077_227086delinsCCGCCCTGAG , CM000678.1:g.227077_227086delinsCCGCCCTGAG | GRCh37 |
| NC_000016.8:g.167077_167086delinsCCGCCCTGAG | NCBI36 |
| NG_000006.1:g.37941_37950delinsCCGCCCTGAG | |
| NG_059186.1:g.5428_5437delinsCCGCCCTGAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.245_254delinsCCGCCCTGAG MANE Select | ENSP00000322421.5:p.Ser82= | |
| ENST00000397797.1:c.149_158delinsCCGCCCTGAG | ENSP00000380899.1:p.Ser50= | |
| ENST00000472694.1:n.381_390delinsCCGCCCTGAG | ||
| ENST00000487791.1:n.214_223delinsCCGCCCTGAG | ||
| NM_000558.4:c.245_254delinsCCGCCCTGAG | NP_000549.1:p.Ser82= | |
| NM_000558.5:c.245_254delinsCCGCCCTGAG MANE Select | NP_000549.1:p.Ser82= |