Linked Data
gnomAD v4:
6-24290797-ATACC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24290798_24290801del , CM000668.2:g.24290798_24290801del | GRCh38 |
| NC_000006.11:g.24291026_24291029del , CM000668.1:g.24291026_24291029del | GRCh37 |
| NC_000006.10:g.24399005_24399008del | NCBI36 |
| NG_012829.1:g.72252_72255del | |
| NG_012829.2:g.97492_97495del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.704+131_704+134del MANE Select | ENSP00000367715.3:n.704+131_704+134del | |
| ENST00000378454.7:c.704+131_704+134del | ENSP00000367715.3:n.704+131_704+134del | |
| NM_001195610.1:c.704+131_704+134del | NP_001182539.1:n.704+131_704+134del | |
| NM_016356.4:c.704+131_704+134del | NP_057440.2:n.704+131_704+134del | |
| NM_016356.5:c.704+131_704+134del MANE Select | NP_057440.2:n.704+131_704+134del | |
| NM_001195610.2:c.704+131_704+134del | NP_001182539.1:n.704+131_704+134del |