Linked Data
gnomAD v2:
8-21974031-A-ACCCCCCC
gnomAD v3:
8-22116518-A-ACCCCCCC
gnomAD v4:
8-22116518-A-ACCCCCCC
MyVariant Identifiers:
chr8:g.21974031_21974032insCCCCCCC (hg19)
chr8:g.22116518_22116519insCCCCCCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.22116518_22116519insCCCCCCC , CM000670.2:g.22116518_22116519insCCCCCCC | GRCh38 |
| NC_000008.10:g.21974031_21974032insCCCCCCC , CM000670.1:g.21974031_21974032insCCCCCCC | GRCh37 |
| NC_000008.9:g.22029976_22029977insCCCCCCC | NCBI36 |
| NG_008166.1:g.18999_19000insGGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381418.9:c.3379-91_3379-90insGGGGGGG MANE Select | ENSP00000370826.4:n.3379-91_3379-90insGGGGGGG | |
| ENST00000680789.1:c.3379-91_3379-90insGGGGGGG | ENSP00000505181.1:n.3379-91_3379-90insGGGGGGG | |
| ENST00000312841.9:c.3214-91_3214-90insGGGGGGG | ENSP00000326765.8:n.3214-91_3214-90insGGGGGGG | |
| ENST00000381418.8:c.3379-91_3379-90insGGGGGGG | ENSP00000370826.4:n.3379-91_3379-90insGGGGGGG | |
| ENST00000522016.1:n.1572-91_1572-90insGGGGGGG | ||
| NM_005144.4:c.3379-91_3379-90insGGGGGGG | NP_005135.2:n.3379-91_3379-90insGGGGGGG | |
| NM_018411.4:c.3214-91_3214-90insGGGGGGG | NP_060881.2:n.3214-91_3214-90insGGGGGGG | |
| XM_005273569.1:c.3382-91_3382-90insGGGGGGG | XP_005273626.1:n.3382-91_3382-90insGGGGGGG | |
| XM_006716367.1:c.3217-91_3217-90insGGGGGGG | XP_006716430.1:n.3217-91_3217-90insGGGGGGG | |
| XM_005273569.2:c.3382-91_3382-90insGGGGGGG | XP_005273626.1:n.3382-91_3382-90insGGGGGGG | |
| XM_006716367.2:c.3217-91_3217-90insGGGGGGG | XP_006716430.1:n.3217-91_3217-90insGGGGGGG | |
| NM_005144.5:c.3379-91_3379-90insGGGGGGG MANE Select | NP_005135.2:n.3379-91_3379-90insGGGGGGG |