Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17293348_17293355delinsGATACATT , CM000669.2:g.17293348_17293355delinsGATACATT | GRCh38 |
| NC_000007.13:g.17332972_17332979delinsGATACATT , CM000669.1:g.17332972_17332979delinsGATACATT | GRCh37 |
| NC_000007.12:g.17299497_17299504delinsGATACATT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642825.1:c.-202-2949_-202-2942delinsGATACATT | ENSP00000495987.1:n.-202-2949_-202-2942delinsGATACATT | |
| XR_927069.1:n.293+1811_293+1818delinsAATGTATC | ||
| XR_927070.1:n.293+1811_293+1818delinsAATGTATC | ||
| XR_927071.1:n.293+1811_293+1818delinsAATGTATC | ||
| XR_927072.1:n.294+1811_294+1818delinsAATGTATC | ||
| XR_927073.1:n.295+1811_295+1818delinsAATGTATC | ||
| XR_927073.2:n.295+1811_295+1818delinsAATGTATC |