Linked Data
dbSNP Id:
rs774658385
ExAC:
16:88876470 AC / A
gnomAD v2:
16-88876470-AC-A
gnomAD v3:
16-88810062-AC-A
gnomAD v4:
16-88810062-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88810065del , CM000678.2:g.88810065del | GRCh38 |
| NC_000016.9:g.88876473del , CM000678.1:g.88876473del | GRCh37 |
| NC_000016.8:g.87403974del | NCBI36 |
| NG_008013.1:g.6872del | |
| NG_028266.1:g.11288del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378364.8:c.400+7del MANE Select | ENSP00000367615.3:n.400+7del | |
| ENST00000378364.7:c.400+7del | ENSP00000367615.3:n.400+7del | |
| ENST00000426324.6:c.400+7del | ENSP00000397007.2:n.400+7del | |
| ENST00000562464.1:n.410+7del | ||
| ENST00000563655.5:c.319+7del | ENSP00000456012.1:n.319+7del | |
| ENST00000567057.5:n.199+7del | ||
| ENST00000567391.5:c.*74+7del | ENSP00000457964.1:n.*74+7del | |
| ENST00000567713.5:c.321+360del | ENSP00000455749.1:n.321+360del | |
| ENST00000568319.5:c.*74+7del | ENSP00000456905.1:n.*74+7del | |
| ENST00000568575.1:n.329+7del | ||
| ENST00000569616.1:c.398+7del | ||
| NM_000485.2:c.400+7del | NP_000476.1:n.400+7del | |
| NM_001030018.1:c.400+7del | NP_001025189.1:n.400+7del | |
| NM_000485.3:c.400+7del MANE Select | NP_000476.1:n.400+7del | |
| NM_001030018.2:c.400+7del | NP_001025189.1:n.400+7del |