Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.129465555_129465583delinsCCTGGGTTTTTCTAAATCATTACGTCTAA , CM000670.2:g.129465555_129465583delinsCCTGGGTTTTTCTAAATCATTACGTCTAA | GRCh38 |
| NC_000008.10:g.130477801_130477829delinsCCTGGGTTTTTCTAAATCATTACGTCTAA , CM000670.1:g.130477801_130477829delinsCCTGGGTTTTTCTAAATCATTACGTCTAA | GRCh37 |
| NC_000008.9:g.130546983_130547011delinsCCTGGGTTTTTCTAAATCATTACGTCTAA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_130917.1:n.360+15060_360+15088delinsTTAGACGTAATGATTTAGAAAAACCCAGG | ||
| NR_130918.1:n.138-95206_138-95178delinsTTAGACGTAATGATTTAGAAAAACCCAGG | ||
| NR_130919.1:n.138-65899_138-65871delinsTTAGACGTAATGATTTAGAAAAACCCAGG | ||
| NR_130920.1:n.138-65899_138-65871delinsTTAGACGTAATGATTTAGAAAAACCCAGG |