This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24290804_24290806del , CM000668.2:g.24290804_24290806del | GRCh38 |
| NC_000006.11:g.24291032_24291034del , CM000668.1:g.24291032_24291034del | GRCh37 |
| NC_000006.10:g.24399011_24399013del | NCBI36 |
| NG_012829.1:g.72247_72249del | |
| NG_012829.2:g.97487_97489del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.704+126_704+128del MANE Select | ENSP00000367715.3:n.704+126_704+128del | |
| ENST00000378454.7:c.704+126_704+128del | ENSP00000367715.3:n.704+126_704+128del | |
| NM_001195610.1:c.704+126_704+128del | NP_001182539.1:n.704+126_704+128del | |
| NM_016356.4:c.704+126_704+128del | NP_057440.2:n.704+126_704+128del | |
| NM_016356.5:c.704+126_704+128del MANE Select | NP_057440.2:n.704+126_704+128del | |
| NM_001195610.2:c.704+126_704+128del | NP_001182539.1:n.704+126_704+128del |