Linked Data
gnomAD v4:
X-25010167-A-ACCCCCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25010173_25010174insCCCCCCC , CM000685.2:g.25010173_25010174insCCCCCCC | GRCh38 |
| NC_000023.10:g.25028290_25028291insCCCCCCC , CM000685.1:g.25028290_25028291insCCCCCCC | GRCh37 |
| NC_000023.9:g.24938211_24938212insCCCCCCC | NCBI36 |
| NG_008281.1:g.10781_10782insGGGGGGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.1119+92_1119+93insGGGGGGG MANE Select | ENSP00000368332.4:n.1119+92_1119+93insGGG... | |
| ENST00000379044.4:c.1119+92_1119+93insGGGGGGG | ENSP00000368332.4:n.1119+92_1119+93insGGG... | |
| NM_139058.2:c.1119+92_1119+93insGGGGGGG | NP_620689.1:n.1119+92_1119+93insGGGGGGG | |
| NM_139058.3:c.1119+92_1119+93insGGGGGGG MANE Select | NP_620689.1:n.1119+92_1119+93insGGGGGGG |