Linked Data
gnomAD v4:
12-13981717-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13981722del , CM000674.2:g.13981722del | GRCh38 |
| NC_000012.11:g.14134656del , CM000674.1:g.14134656del | GRCh37 |
| NC_000012.10:g.14025923del | NCBI36 |
| NG_031854.1:g.3371del | |
| NG_031854.2:g.5295del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000630791.2:c.-682-142del | ENSP00000486677.2:n.-682-142del | |
| ENST00000627535.2:c.-448+198del | ENSP00000486411.1:n.-448+198del | |
| ENST00000630791.1:c.-682-142del | ENSP00000486677.1:n.-682-142del | |
| XM_011520629.1:c.-682-142del | XP_011518931.1:n.-682-142del | |
| XM_011520628.2:c.-824del | XP_011518930.1:n.-824del | |
| XM_011520629.2:c.-682-142del | XP_011518931.1:n.-682-142del |