Linked Data
gnomAD v4:
11-55811832-C-CGAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.55811832_55811833insGAA , CM000673.2:g.55811832_55811833insGAA | GRCh38 |
| NC_000011.9:g.55579308_55579309insGAA , CM000673.1:g.55579308_55579309insGAA | GRCh37 |
| NC_000011.8:g.55335884_55335885insGAA | NCBI36 |
| NG_052620.1:g.5466_5467insGAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000625203.2:c.366_367insGAA MANE Select | ENSP00000485319.1:p.Arg122_Phe123insGlu | |
| ENST00000333973.3:c.366_367insGAA | ENSP00000335529.2:p.Arg122_Phe123insGlu | |
| ENST00000623450.1:c.366_367insGAA | ENSP00000485509.1:p.Arg122_Phe123insGlu | |
| ENST00000625203.1:c.366_367insGAA | ENSP00000485319.1:p.Arg122_Phe123insGlu | |
| NM_001004738.1:c.366_367insGAA | NP_001004738.1:p.Arg122_Phe123insGlu | |
| NM_001004738.2:c.366_367insGAA MANE Select | NP_001004738.1:p.Arg122_Phe123insGlu |