Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.128547114_128547115insAAAAGAAAAAAACAAAAAAAAATTATTTAAAAAAAAAAAAAAAAAAAAA , CM000670.2:g.128547114_128547115insAAAAGAAAAAAACAAAAAAAAATTATTTAAAAAAAAAAAAAAAAAAAAA | GRCh38 |
| NC_000008.10:g.129559360_129559361insAAAAGAAAAAAACAAAAAAAAATTATTTAAAAAAAAAAAAAAAAAAAAA , CM000670.1:g.129559360_129559361insAAAAGAAAAAAACAAAAAAAAATTATTTAAAAAAAAAAAAAAAAAAAAA | GRCh37 |
| NC_000008.9:g.129628542_129628543insAAAAGAAAAAAACAAAAAAAAATTATTTAAAAAAAAAAAAAAAAAAAAA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_121672.1:n.508+13974_508+13975insTTAAATAATTTTTTTTTGTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT |