Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52488350_52488351insGAAGAGCTATAAGCACTAAAGTGCGTCTGCTAGCTCT , CM000674.2:g.52488350_52488351insGAAGAGCTATAAGCACTAAAGTGCGTCTGCTAGCTCT | GRCh38 |
| NC_000012.11:g.52882134_52882135insGAAGAGCTATAAGCACTAAAGTGCGTCTGCTAGCTCT , CM000674.1:g.52882134_52882135insGAAGAGCTATAAGCACTAAAGTGCGTCTGCTAGCTCT | GRCh37 |
| NC_000012.10:g.51168401_51168402insGAAGAGCTATAAGCACTAAAGTGCGTCTGCTAGCTCT | NCBI36 |
| NG_008298.1:g.10047_10048insAGAGCTAGCAGACGCACTTTAGTGCTTATAGCTCTTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1401_1402insAGAGCTAGCAGACGCACTTTAGTGCTTATAGCTCTTC MANE Select | ENSP00000369317.3:p.Leu468ArgfsTer17 | |
| ENST00000330722.6:c.1401_1402insAGAGCTAGCAGACGCACTTTAGTGCTTATAGCTCTTC | ENSP00000369317.3:p.Leu468ArgfsTer17 | |
| NM_005554.3:c.1401_1402insAGAGCTAGCAGACGCACTTTAGTGCTTATAGCTCTTC | NP_005545.1:p.Leu468ArgfsTer17 | |
| NM_005554.4:c.1401_1402insAGAGCTAGCAGACGCACTTTAGTGCTTATAGCTCTTC MANE Select | NP_005545.1:p.Leu468ArgfsTer17 |