Linked Data
ClinVar Variation Id:
370649
ClinVar RCV Id:
RCV000411921
dbSNP Id:
rs1057516657
PubMed:
PMID:24737350
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.36222867_36222868del , CM000671.2:g.36222867_36222868del | GRCh38 |
| NC_000009.11:g.36222864_36222865del , CM000671.1:g.36222864_36222865del | GRCh37 |
| NC_000009.10:g.36212864_36212865del | NCBI36 |
| NG_008246.1:g.59178_59179del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396594.8:c.1636_1637del (GNE) MANE Plus Clinical | ENSP00000379839.3:p.Asp546GlnfsTer2 | |
| ENST00000543356.7:c.1366_1367del (GNE) | ENSP00000437765.3:p.Asp456GlnfsTer2 | |
| ENST00000642385.2:c.1543_1544del (GNE) MANE Select | ENSP00000494141.2:p.Asp515GlnfsTer2 | |
| ENST00000377902.5:c.1543_1544del (GNE) | ENSP00000367134.4:p.Asp515GlnfsTer2 | |
| ENST00000396594.7:c.1636_1637del (GNE) | ENSP00000379839.3:p.Asp546GlnfsTer2 | |
| ENST00000447283.6:c.1411+506_1411+507del (GNE) | ENSP00000414760.2:n.1411+506_1411+507del | |
| ENST00000464497.5:c.485+18688_485+18689del (CLTA) | ENSP00000419158.1:n.485+18688_485+18689de... | |
| ENST00000539208.5:c.1213_1214del (GNE) | ENSP00000445117.1:p.Asp405GlnfsTer2 | |
| ENST00000539815.5:c.1543_1544del (GNE) | ENSP00000439155.1:p.Asp515GlnfsTer2 | |
| ENST00000543356.6:c.1528_1529del (GNE) | ENSP00000437765.2:p.Asp510GlnfsTer2 | |
| NM_001128227.2:c.1636_1637del (GNE) | NP_001121699.1:p.Asp546GlnfsTer2 | |
| NM_001190383.1:c.1411+506_1411+507del (GNE) | NP_001177312.1:n.1411+506_1411+507del | |
| NM_001190384.1:c.1213_1214del (GNE) | NP_001177313.1:p.Asp405GlnfsTer2 | |
| NM_001190388.1:c.1528_1529del (GNE) | NP_001177317.1:p.Asp510GlnfsTer2 | |
| NM_005476.5:c.1543_1544del (GNE) | NP_005467.1:p.Asp515GlnfsTer2 | |
| XM_005251334.3:c.1483_1484del (GNE) | XP_005251391.1:p.Asp495GlnfsTer2 | |
| NM_001190383.2:c.1411+506_1411+507del (GNE) | NP_001177312.1:n.1411+506_1411+507del | |
| NM_001190384.2:c.1213_1214del (GNE) | NP_001177313.1:p.Asp405GlnfsTer2 | |
| NM_005476.6:c.1543_1544del (GNE) | NP_005467.1:p.Asp515GlnfsTer2 | |
| XM_005251334.4:c.1483_1484del (GNE) | XP_005251391.1:p.Asp495GlnfsTer2 | |
| XM_017014167.1:c.1543_1544del (GNE) | XP_016869656.1:p.Asp515GlnfsTer2 | |
| XM_017014168.1:c.1390_1391del (GNE) | XP_016869657.1:p.Asp464GlnfsTer2 | |
| NM_001128227.3:c.1636_1637del (GNE) MANE Plus Clinical | NP_001121699.1:p.Asp546GlnfsTer2 | |
| NM_001190383.3:c.1411+506_1411+507del (GNE) | NP_001177312.1:n.1411+506_1411+507del | |
| NM_001190384.3:c.1213_1214del (GNE) | NP_001177313.1:p.Asp405GlnfsTer2 | |
| NM_001190388.2:c.1366_1367del (GNE) | NP_001177317.2:p.Asp456GlnfsTer2 | |
| NM_001374797.1:c.1390_1391del (GNE) | NP_001361726.1:p.Asp464GlnfsTer2 | |
| NM_001374798.1:c.1366_1367del (GNE) | NP_001361727.1:p.Asp456GlnfsTer2 | |
| NM_005476.7:c.1543_1544del (GNE) MANE Select | NP_005467.1:p.Asp515GlnfsTer2 |