Linked Data
dbSNP Id:
rs1937318574
gnomAD v3:
22-19797352-T-TGGGGGGGG
gnomAD v4:
22-19797352-T-TGGGGGGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19797357_19797358insGGGGGGGG , CM000684.2:g.19797357_19797358insGGGGGGGG | GRCh38 |
| NC_000022.10:g.19784880_19784881insGGGGGGGG , CM000684.1:g.19784880_19784881insGGGGGGGG | GRCh37 |
| NC_000022.9:g.18164880_18164881insGGGGGGGG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329517.11:c.732+4648_732+4649insCCCCCCCC MANE Select | ENSP00000331313.6:n.732+4648_732+4649insCCCCCCCC | |
| ENST00000329517.10:c.732+4648_732+4649insCCCCCCCC | ENSP00000331313.6:n.732+4648_732+4649insCCCCCCCC | |
| ENST00000403325.5:c.732+4648_732+4649insCCCCCCCC | ENSP00000385154.1:n.732+4648_732+4649insCCCCCCCC | |
| ENST00000405009.5:c.630+4750_630+4751insCCCCCCCC | ENSP00000384626.1:n.630+4750_630+4751insCCCCCCCC | |
| ENST00000460402.5:n.700+4648_700+4649insCCCCCCCC | ||
| NM_053004.2:c.732+4648_732+4649insCCCCCCCC | NP_443730.1:n.732+4648_732+4649insCCCCCCCC | |
| NM_053004.3:c.732+4648_732+4649insCCCCCCCC MANE Select | NP_443730.1:n.732+4648_732+4649insCCCCCCCC |