Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148807328_148807329insTTTTTTT , CM000669.2:g.148807328_148807329insTTTTTTT | GRCh38 |
| NC_000007.13:g.148504420_148504421insTTTTTTT , CM000669.1:g.148504420_148504421insTTTTTTT | GRCh37 |
| NC_000007.12:g.148135353_148135354insTTTTTTT | NCBI36 |
| NG_032043.1:g.82027_82028insAAAAAAA , LRG_531:g.82027_82028insAAAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683292.1:c.*1475_*1476insAAAAAAA | ENSP00000507503.1:n.*1475_*1476insAAAAAAA | |
| XR_928101.1:n.515+2243_515+2244insTTTTTTT | ||
| XR_928102.1:n.722+2243_722+2244insTTTTTTT |