Linked Data
gnomAD v4:
16-88810068-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88810070del , CM000678.2:g.88810070del | GRCh38 |
| NC_000016.9:g.88876478del , CM000678.1:g.88876478del | GRCh37 |
| NC_000016.8:g.87403979del | NCBI36 |
| NG_008013.1:g.6866del | |
| NG_028266.1:g.11293del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378364.8:c.400+1del | ||
| ENST00000378364.7:c.400+1del | ||
| ENST00000426324.6:c.400+1del | ||
| ENST00000562464.1:n.410+1del | ||
| ENST00000563655.5:c.319+1del | ||
| ENST00000567057.5:n.199+1del | ||
| ENST00000567391.5:c.*74+1del | ||
| ENST00000567713.5:c.321+354del | ENSP00000455749.1:n.321+354del | |
| ENST00000568319.5:c.*74+1del | ||
| ENST00000568575.1:n.329+1del | ||
| ENST00000569616.1:c.398+1del | ||
| NM_000485.2:c.400+1del | ||
| NM_001030018.1:c.400+1del | ||
| NM_000485.3:c.400+1del | ||
| NM_001030018.2:c.400+1del |