Linked Data
gnomAD v4:
2-240869470-C-CAGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869471_240869472insGGA , CM000664.2:g.240869471_240869472insGGA | GRCh38 |
| NC_000002.11:g.241808888_241808889insGGA , CM000664.1:g.241808888_241808889insGGA | GRCh37 |
| NC_000002.10:g.241457561_241457562insGGA | NCBI36 |
| NG_008005.1:g.5727_5728insGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.358+109_358+110insGGA MANE Select | ENSP00000302620.3:n.358+109_358+110insGGA | |
| ENST00000307503.3:c.358+109_358+110insGGA | ENSP00000302620.3:n.358+109_358+110insGGA | |
| ENST00000472436.1:n.378+109_378+110insGGA | ||
| NM_000030.2:c.358+109_358+110insGGA | NP_000021.1:n.358+109_358+110insGGA | |
| XR_924060.1:n.405+762_405+763insCCT | ||
| NM_000030.3:c.358+109_358+110insGGA MANE Select | NP_000021.1:n.358+109_358+110insGGA |