Canonical Allele Identifier: CA16041311
Gene: GNE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370649
ClinVar RCV Id: RCV000411921
dbSNP Id: rs1057516657

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36222867_36222868del , CM000671.2:g.36222867_36222868del GRCh38
NC_000009.10:g.36212864_36212865del NCBI36
NC_000009.11:g.36222864_36222865del , CM000671.1:g.36222864_36222865del GRCh37
NG_008246.1:g.59178_59179del

Transcript Alleles

HGVS Amino-acid change
ENST00000377902.5:c.1543_1544del ENSP00000367134.4:p.Asp515GlnfsTer2
ENST00000396594.7:c.1636_1637del ENSP00000379839.3:p.Asp546GlnfsTer2
ENST00000447283.6:c.1411+506_1411+507del ENSP00000414760.2:p.=
ENST00000464497.5:c.485+18688_485+18689del ENSP00000419158.1:p.=
ENST00000539208.5:c.1213_1214del ENSP00000445117.1:p.Asp405GlnfsTer2
ENST00000539815.5:c.1543_1544del ENSP00000439155.1:p.Asp515GlnfsTer2
ENST00000543356.6:n.1528_1529del ENSP00000437765.2:p.Asp510GlnfsTer2
NM_001128227.2:c.1636_1637del VV NP_001121699.1:p.Asp546GlnfsTer2
NM_001190383.1:c.1411+506_1411+507del VV NP_001177312.1:p.=
NM_001190384.1:c.1213_1214del VV NP_001177313.1:p.Asp405GlnfsTer2
NM_001190388.1:c.1528_1529del VV NP_001177317.1:p.Asp510GlnfsTer2
NM_005476.5:c.1543_1544del VV NP_005467.1:p.Asp515GlnfsTer2
XM_005251334.3:c.1483_1484del XP_005251391.1:p.Asp495GlnfsTer2