Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63941184_63941185insGTCCTACGAGCCCACCACCACCC , CM000679.2:g.63941184_63941185insGTCCTACGAGCCCACCACCACCC | GRCh38 |
| NC_000017.10:g.62018544_62018545insGTCCTACGAGCCCACCACCACCC , CM000679.1:g.62018544_62018545insGTCCTACGAGCCCACCACCACCC | GRCh37 |
| NC_000017.9:g.59372276_59372277insGTCCTACGAGCCCACCACCACCC | NCBI36 |
| NG_011699.1:g.36734_36735insGGGTGGTGGTGGGCTCGTAGGAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435607.3:c.5097_5098insGGGTGGTGGTGGGCTCGTAGGAC MANE Select | ENSP00000396320.1:p.Thr1700GlyfsTer? | |
| ENST00000578147.5:c.5097_5098insGGGTGGTGGTGGGCTCGTAGGAC | ENSP00000463963.1:p.Thr1700GlyfsTer? | |
| NM_000334.4:c.5097_5098insGGGTGGTGGTGGGCTCGTAGGAC MANE Select | NP_000325.4:p.Thr1700GlyfsTer? | |
| XM_005257566.3:c.5097_5098insGGGTGGTGGTGGGCTCGTAGGAC | XP_005257623.1:p.Thr1700GlyfsTer? |