Linked Data
gnomAD v4:
2-240874130-C-CGGGGGGGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240874133_240874134insGGGGGGGGG , CM000664.2:g.240874133_240874134insGGGGGGGGG | GRCh38 |
| NC_000002.11:g.241813550_241813551insGGGGGGGGG , CM000664.1:g.241813550_241813551insGGGGGGGGG | GRCh37 |
| NC_000002.10:g.241462223_241462224insGGGGGGGGG | NCBI36 |
| NG_008005.1:g.10389_10390insGGGGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.680+71_680+72insGGGGGGGGG MANE Select | ENSP00000302620.3:n.680+71_680+72insGGGGGGGGG | |
| ENST00000307503.3:c.680+71_680+72insGGGGGGGGG | ENSP00000302620.3:n.680+71_680+72insGGGGGGGGG | |
| ENST00000476698.1:n.333-976_333-975insGGGGGGGGG | ||
| NM_000030.2:c.680+71_680+72insGGGGGGGGG | NP_000021.1:n.680+71_680+72insGGGGGGGGG | |
| NM_000030.3:c.680+71_680+72insGGGGGGGGG MANE Select | NP_000021.1:n.680+71_680+72insGGGGGGGGG |