ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.36246045_36246048dup , CM000671.2:g.36246045_36246048dup | GRCh38 |
| NC_000009.11:g.36246042_36246045dup , CM000671.1:g.36246042_36246045dup | GRCh37 |
| NC_000009.10:g.36236042_36236045dup | NCBI36 |
| NG_008246.1:g.35999_36002dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396594.8:c.694_697dup (GNE) MANE Plus Clinical | ENSP00000379839.3:p.Arg233HisfsTer7 | |
| ENST00000543356.7:c.424_427dup (GNE) | ENSP00000437765.3:p.Arg143HisfsTer7 | |
| ENST00000642385.2:c.601_604dup (GNE) MANE Select | ENSP00000494141.2:p.Arg202HisfsTer7 | |
| ENST00000377902.5:c.601_604dup (GNE) | ENSP00000367134.4:p.Arg202HisfsTer7 | |
| ENST00000396594.7:c.694_697dup (GNE) | ENSP00000379839.3:p.Arg233HisfsTer7 | |
| ENST00000447283.6:c.601_604dup (GNE) | ENSP00000414760.2:p.Arg202HisfsTer7 | |
| ENST00000464497.5:c.486-17153_486-17150dup (CLTA) | ENSP00000419158.1:n.486-17153_486-17150dup | |
| ENST00000539208.5:c.424_427dup (GNE) | ENSP00000445117.1:p.Arg143HisfsTer20 | |
| ENST00000539815.5:c.601_604dup (GNE) | ENSP00000439155.1:p.Arg202HisfsTer7 | |
| ENST00000543356.6:c.586_589dup (GNE) | ENSP00000437765.2:p.Arg197HisfsTer7 | |
| NM_001128227.2:c.694_697dup (GNE) | NP_001121699.1:p.Arg233HisfsTer7 | |
| NM_001190383.1:c.601_604dup (GNE) | NP_001177312.1:p.Arg202HisfsTer7 | |
| NM_001190384.1:c.424_427dup (GNE) | NP_001177313.1:p.Arg143HisfsTer20 | |
| NM_001190388.1:c.586_589dup (GNE) | NP_001177317.1:p.Arg197HisfsTer7 | |
| NM_005476.5:c.601_604dup (GNE) | NP_005467.1:p.Arg202HisfsTer7 | |
| XM_005251334.3:c.694_697dup (GNE) | XP_005251391.1:p.Arg233HisfsTer20 | |
| NM_001190383.2:c.601_604dup (GNE) | NP_001177312.1:p.Arg202HisfsTer7 | |
| NM_001190384.2:c.424_427dup (GNE) | NP_001177313.1:p.Arg143HisfsTer20 | |
| NM_005476.6:c.601_604dup (GNE) | NP_005467.1:p.Arg202HisfsTer7 | |
| XM_005251334.4:c.694_697dup (GNE) | XP_005251391.1:p.Arg233HisfsTer20 | |
| XM_017014167.1:c.601_604dup (GNE) | XP_016869656.1:p.Arg202HisfsTer7 | |
| XM_017014168.1:c.601_604dup (GNE) | XP_016869657.1:p.Arg202HisfsTer20 | |
| NM_001128227.3:c.694_697dup (GNE) MANE Plus Clinical | NP_001121699.1:p.Arg233HisfsTer7 | |
| NM_001190383.3:c.601_604dup (GNE) | NP_001177312.1:p.Arg202HisfsTer7 | |
| NM_001190384.3:c.424_427dup (GNE) | NP_001177313.1:p.Arg143HisfsTer20 | |
| NM_001190388.2:c.424_427dup (GNE) | NP_001177317.2:p.Arg143HisfsTer7 | |
| NM_001374797.1:c.601_604dup (GNE) | NP_001361726.1:p.Arg202HisfsTer20 | |
| NM_001374798.1:c.424_427dup (GNE) | NP_001361727.1:p.Arg143HisfsTer7 | |
| NM_005476.7:c.601_604dup (GNE) MANE Select | NP_005467.1:p.Arg202HisfsTer7 |