Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7668306_7668343delinsCCCCAGCCCACACTCATTGCAGACTCAGGTGGCTGCTT , CM000679.2:g.7668306_7668343delinsCCCCAGCCCACACTCATTGCAGACTCAGGTGGCTGCTT | GRCh38 |
| NC_000017.10:g.7571624_7571661delinsCCCCAGCCCACACTCATTGCAGACTCAGGTGGCTGCTT , CM000679.1:g.7571624_7571661delinsCCCCAGCCCACACTCATTGCAGACTCAGGTGGCTGCTT | GRCh37 |
| NC_000017.9:g.7512349_7512386delinsCCCCAGCCCACACTCATTGCAGACTCAGGTGGCTGCTT | NCBI36 |
| NG_017013.2:g.24208_24245delinsAAGCAGCCACCTGAGTCTGCAATGAGTGTGGGCTGGGG , LRG_321:g.24208_24245delinsAAGCAGCCACCTGAGTCTGCAATGAGTGTGGGCTGGGG |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000359597.8:c.994-2099_994-2062delinsAAGCAGCCACCTGAGTCTGCAATGAGTGTGGGCTGGGG | ENSP00000352610.4:n.994-2099_994-2062delinsAAGCAGCCACCTGAGTCT... |
| ENST00000413465.6:c.782+5838_782+5875delinsAAGCAGCCACCTGAGTCTGCAATGAGTGTGGGCTGGGG | ENSP00000410739.2:n.782+5838_782+5875delinsAAGCAGCCACCTGAGTCT... |
| ENST00000635293.1:c.984-918_984-881delinsAAGCAGCCACCTGAGTCTGCAATGAGTGTGGGCTGGGG | ENSP00000488924.1:n.984-918_984-881delinsAAGCAGCCACCTGAGTCTGC... |