Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8086147_8086173delinsTACCGCTCTTTGTGCAGGCGGATGATG , CM000679.2:g.8086147_8086173delinsTACCGCTCTTTGTGCAGGCGGATGATG | GRCh38 |
| NC_000017.10:g.7989465_7989491delinsTACCGCTCTTTGTGCAGGCGGATGATG , CM000679.1:g.7989465_7989491delinsTACCGCTCTTTGTGCAGGCGGATGATG | GRCh37 |
| NC_000017.9:g.7930190_7930216delinsTACCGCTCTTTGTGCAGGCGGATGATG | NCBI36 |
| NG_007099.1:g.6531_6557delinsCATCATCCGCCTGCACAAAGAGCGGTA | |
| NG_007099.2:g.6544_6570delinsCATCATCCGCCTGCACAAAGAGCGGTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.195_221delinsCATCATCCGCCTGCACAAAGAGCGGTA MANE Select | ENSP00000497784.1:p.Ile65= | |
| ENST00000319144.4:c.195_221delinsCATCATCCGCCTGCACAAAGAGCGGTA | ENSP00000315167.4:p.Ile65= | |
| NM_001139.2:c.195_221delinsCATCATCCGCCTGCACAAAGAGCGGTA | NP_001130.1:p.Ile65= | |
| NM_001139.3:c.195_221delinsCATCATCCGCCTGCACAAAGAGCGGTA MANE Select | NP_001130.1:p.Ile65= |