Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960440_47960456delinsCGGTCGGGGGCGGTGAT , CM000670.2:g.47960440_47960456delinsCGGTCGGGGGCGGTGAT | GRCh38 |
| NC_000008.10:g.48873000_48873016delinsCGGTCGGGGGCGGTGAT , CM000670.1:g.48873000_48873016delinsCGGTCGGGGGCGGTGAT | GRCh37 |
| NC_000008.9:g.49035553_49035569delinsCGGTCGGGGGCGGTGAT | NCBI36 |
| NG_023435.1:g.4728_4744delinsATCACCGCCCCCGACCG , LRG_162:g.4728_4744delinsATCACCGCCCCCGACCG | |
| NG_032967.1:g.5238_5254delinsCGGTCGGGGGCGGTGAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518221.5:c.-15+120_-15+136delinsCGGTCGGGGGCGGTGAT | ENSP00000430329.1:n.-15+120_-15+136delinsCGGTCGGGGGCGGTGAT | |
| NM_005914.3:c.-705_-689delinsCGGTCGGGGGCGGTGAT | NP_005905.2:n.-705_-689delinsCGGTCGGGGGCGGTGAT | |
| NM_182746.2:c.-589_-573delinsCGGTCGGGGGCGGTGAT | NP_877423.1:n.-589_-573delinsCGGTCGGGGGCGGTGAT | |
| XM_005251234.1:c.-951_-935delinsCGGTCGGGGGCGGTGAT | XP_005251291.1:n.-951_-935delinsCGGTCGGGGGCGGTGAT |