Linked Data
gnomAD v4:
16-73679904-CCAAATATTAAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.73679905_73679915del , CM000678.2:g.73679905_73679915del | GRCh38 |
| NC_000016.9:g.73713804_73713814del , CM000678.1:g.73713804_73713814del | GRCh37 |
| NC_000016.8:g.72271305_72271315del | NCBI36 |
| NG_013211.2:g.217017_217027del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641018.1:n.426_436del | ||
| ENST00000641206.2:c.-1547+265_-1547+275del | ENSP00000493252.1:n.-1547+265_-1547+275del | |
| ENST00000642085.1:n.163+265_163+275del | ||
| XR_933730.1:n.355+265_355+275del | ||
| XM_024450275.1:c.-494+265_-494+275del | XP_024306043.1:n.-494+265_-494+275del | |
| NM_001386735.1:c.-1064+265_-1064+275del | NP_001373664.1:n.-1064+265_-1064+275del |