Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583204_41583235delinsGGGGCGGACTAAGGGGAGGGCCAAGACTCACT , CM000679.2:g.41583204_41583235delinsGGGGCGGACTAAGGGGAGGGCCAAGACTCACT | GRCh38 |
| NC_000017.10:g.39739456_39739487delinsGGGGCGGACTAAGGGGAGGGCCAAGACTCACT , CM000679.1:g.39739456_39739487delinsGGGGCGGACTAAGGGGAGGGCCAAGACTCACT | GRCh37 |
| NC_000017.9:g.36992982_36993013delinsGGGGCGGACTAAGGGGAGGGCCAAGACTCACT | NCBI36 |
| NG_008624.1:g.8661_8692delinsAGTGAGTCTTGGCCCTCCCCTTAGTCCGCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1274_1274+31delinsAGTGAGTCTTGGCCCTCCCCTTAGTCCGCCCC | ||
| ENST00000167586.6:c.1274_1274+31delinsAGTGAGTCTTGGCCCTCCCCTTAGTCCGCCCC | ||
| ENST00000441550.2:n.221_221+31delinsAGTGAGTCTTGGCCCTCCCCTTAGTCCGCCCC | ||
| NM_000526.4:c.1274_1274+31delinsAGTGAGTCTTGGCCCTCCCCTTAGTCCGCCCC | ||
| NM_000526.5:c.1274_1274+31delinsAGTGAGTCTTGGCCCTCCCCTTAGTCCGCCCC |