Linked Data
gnomAD v3:
22-19797344-A-AGGGGGGGGGGGGGGGGGGGGGGGGGGGG
gnomAD v4:
22-19797344-A-AGGGGGGGGGGGGGGGGGGGGGGGGGGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19797351_19797352insGGGGGGGGGGGGGGGGGGGGGGGGGGGG , CM000684.2:g.19797351_19797352insGGGGGGGGGGGGGGGGGGGGGGGGGGGG | GRCh38 |
| NC_000022.10:g.19784874_19784875insGGGGGGGGGGGGGGGGGGGGGGGGGGGG , CM000684.1:g.19784874_19784875insGGGGGGGGGGGGGGGGGGGGGGGGGGGG | GRCh37 |
| NC_000022.9:g.18164874_18164875insGGGGGGGGGGGGGGGGGGGGGGGGGGGG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329517.11:c.732+4656_732+4657insCCCCCCCCCCCCCCCCCCCCCCCCCCCC MANE Select | ENSP00000331313.6:n.732+4656_732+4657insCCCCCCCCCCCCCCCCCCCCC... | |
| ENST00000329517.10:c.732+4656_732+4657insCCCCCCCCCCCCCCCCCCCCCCCCCCCC | ENSP00000331313.6:n.732+4656_732+4657insCCCCCCCCCCCCCCCCCCCCC... | |
| ENST00000403325.5:c.732+4656_732+4657insCCCCCCCCCCCCCCCCCCCCCCCCCCCC | ENSP00000385154.1:n.732+4656_732+4657insCCCCCCCCCCCCCCCCCCCCC... | |
| ENST00000405009.5:c.630+4758_630+4759insCCCCCCCCCCCCCCCCCCCCCCCCCCCC | ENSP00000384626.1:n.630+4758_630+4759insCCCCCCCCCCCCCCCCCCCCC... | |
| ENST00000460402.5:n.700+4656_700+4657insCCCCCCCCCCCCCCCCCCCCCCCCCCCC | ||
| NM_053004.2:c.732+4656_732+4657insCCCCCCCCCCCCCCCCCCCCCCCCCCCC | NP_443730.1:n.732+4656_732+4657insCCCCCCCCCCCCCCCCCCCCCCCCCCC... | |
| NM_053004.3:c.732+4656_732+4657insCCCCCCCCCCCCCCCCCCCCCCCCCCCC MANE Select | NP_443730.1:n.732+4656_732+4657insCCCCCCCCCCCCCCCCCCCCCCCCCCC... |