Linked Data
gnomAD v4:
12-69353391-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353395del , CM000674.2:g.69353395del | GRCh38 |
| NC_000012.11:g.69747175del , CM000674.1:g.69747175del | GRCh37 |
| NC_000012.10:g.68033442del | NCBI36 |
| NG_008195.1:g.10042del , LRG_768:g.10042del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*176del MANE Select | ENSP00000261267.2:n.*176del | |
| ENST00000261267.6:c.*176del | ENSP00000261267.2:n.*176del | |
| ENST00000549690.1:c.*130del | ENSP00000449898.1:n.*130del | |
| NM_000239.2:c.*176del , LRG_768t1:c.*176del | NP_000230.1:n.*176del | |
| NM_000239.3:c.*176del MANE Select | NP_000230.1:n.*176del |