ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Joint Max Group AF
6.8e-7 (NFE)
Exomes Max Group AF
7.2e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.36222796_36222803del , CM000671.2:g.36222796_36222803del | GRCh38 |
| NC_000009.11:g.36222793_36222800del , CM000671.1:g.36222793_36222800del | GRCh37 |
| NC_000009.10:g.36212793_36212800del | NCBI36 |
| NG_008246.1:g.59244_59251del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396594.8:c.1702_1709del (GNE) MANE Plus Clinical | ENSP00000379839.3:p.Phe568ThrfsTer16 | |
| ENST00000543356.7:c.1432_1439del (GNE) | ENSP00000437765.3:p.Phe478ThrfsTer16 | |
| ENST00000642385.2:c.1609_1616del (GNE) MANE Select | ENSP00000494141.2:p.Phe537ThrfsTer16 | |
| ENST00000377902.5:c.1609_1616del (GNE) | ENSP00000367134.4:p.Phe537ThrfsTer16 | |
| ENST00000396594.7:c.1702_1709del (GNE) | ENSP00000379839.3:p.Phe568ThrfsTer16 | |
| ENST00000447283.6:c.1411+572_1411+579del (GNE) | ENSP00000414760.2:n.1411+572_1411+579del | |
| ENST00000464497.5:c.485+18617_485+18624del (CLTA) | ENSP00000419158.1:n.485+18617_485+18624del | |
| ENST00000539208.5:c.1279_1286del (GNE) | ENSP00000445117.1:p.Phe427ThrfsTer16 | |
| ENST00000539815.5:c.1609_1616del (GNE) | ENSP00000439155.1:p.Phe537ThrfsTer16 | |
| ENST00000543356.6:c.1594_1601del (GNE) | ENSP00000437765.2:p.Phe532ThrfsTer16 | |
| NM_001128227.2:c.1702_1709del (GNE) | NP_001121699.1:p.Phe568ThrfsTer16 | |
| NM_001190383.1:c.1411+572_1411+579del (GNE) | NP_001177312.1:n.1411+572_1411+579del | |
| NM_001190384.1:c.1279_1286del (GNE) | NP_001177313.1:p.Phe427ThrfsTer16 | |
| NM_001190388.1:c.1594_1601del (GNE) | NP_001177317.1:p.Phe532ThrfsTer16 | |
| NM_005476.5:c.1609_1616del (GNE) | NP_005467.1:p.Phe537ThrfsTer16 | |
| XM_005251334.3:c.1549_1556del (GNE) | XP_005251391.1:p.Phe517ThrfsTer16 | |
| NM_001190383.2:c.1411+572_1411+579del (GNE) | NP_001177312.1:n.1411+572_1411+579del | |
| NM_001190384.2:c.1279_1286del (GNE) | NP_001177313.1:p.Phe427ThrfsTer16 | |
| NM_005476.6:c.1609_1616del (GNE) | NP_005467.1:p.Phe537ThrfsTer16 | |
| XM_005251334.4:c.1549_1556del (GNE) | XP_005251391.1:p.Phe517ThrfsTer16 | |
| XM_017014167.1:c.1609_1616del (GNE) | XP_016869656.1:p.Phe537ThrfsTer16 | |
| XM_017014168.1:c.1456_1463del (GNE) | XP_016869657.1:p.Phe486ThrfsTer16 | |
| NM_001128227.3:c.1702_1709del (GNE) MANE Plus Clinical | NP_001121699.1:p.Phe568ThrfsTer16 | |
| NM_001190383.3:c.1411+572_1411+579del (GNE) | NP_001177312.1:n.1411+572_1411+579del | |
| NM_001190384.3:c.1279_1286del (GNE) | NP_001177313.1:p.Phe427ThrfsTer16 | |
| NM_001190388.2:c.1432_1439del (GNE) | NP_001177317.2:p.Phe478ThrfsTer16 | |
| NM_001374797.1:c.1456_1463del (GNE) | NP_001361726.1:p.Phe486ThrfsTer16 | |
| NM_001374798.1:c.1432_1439del (GNE) | NP_001361727.1:p.Phe478ThrfsTer16 | |
| NM_005476.7:c.1609_1616del (GNE) MANE Select | NP_005467.1:p.Phe537ThrfsTer16 |