Canonical Allele Identifier: CA2824998271

Gene: GNE CLTA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36222956_36222957delinsCT , CM000671.2:g.36222956_36222957delinsCT	GRCh38
NC_000009.11:g.36222953_36222954delinsCT , CM000671.1:g.36222953_36222954delinsCT	GRCh37
NC_000009.10:g.36212953_36212954delinsCT	NCBI36
NG_008246.1:g.59088_59089delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.1546_1547delinsAG (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Val516Arg
ENST00000543356.7:c.1276_1277delinsAG (GNE)	ENSP00000437765.3:p.Val426Arg
ENST00000642385.2:c.1453_1454delinsAG (GNE) MANE Select	ENSP00000494141.2:p.Val485Arg
ENST00000377902.5:c.1453_1454delinsAG (GNE)	ENSP00000367134.4:p.Val485Arg
ENST00000396594.7:c.1546_1547delinsAG (GNE)	ENSP00000379839.3:p.Val516Arg
ENST00000447283.6:c.1411+416_1411+417delinsAG (GNE)	ENSP00000414760.2:n.1411+416_1411+417delinsAG
ENST00000464497.5:c.485+18777_485+18778delinsCT (CLTA)	ENSP00000419158.1:n.485+18777_485+18778delinsCT
ENST00000539208.5:c.1123_1124delinsAG (GNE)	ENSP00000445117.1:p.Val375Arg
ENST00000539815.5:c.1453_1454delinsAG (GNE)	ENSP00000439155.1:p.Val485Arg
ENST00000543356.6:c.1438_1439delinsAG (GNE)	ENSP00000437765.2:p.Val480Arg
NM_001128227.2:c.1546_1547delinsAG (GNE)	NP_001121699.1:p.Val516Arg
NM_001190383.1:c.1411+416_1411+417delinsAG (GNE)	NP_001177312.1:n.1411+416_1411+417delinsAG
NM_001190384.1:c.1123_1124delinsAG (GNE)	NP_001177313.1:p.Val375Arg
NM_001190388.1:c.1438_1439delinsAG (GNE)	NP_001177317.1:p.Val480Arg
NM_005476.5:c.1453_1454delinsAG (GNE)	NP_005467.1:p.Val485Arg
XM_005251334.3:c.1393_1394delinsAG (GNE)	XP_005251391.1:p.Val465Arg
NM_001190383.2:c.1411+416_1411+417delinsAG (GNE)	NP_001177312.1:n.1411+416_1411+417delinsAG
NM_001190384.2:c.1123_1124delinsAG (GNE)	NP_001177313.1:p.Val375Arg
NM_005476.6:c.1453_1454delinsAG (GNE)	NP_005467.1:p.Val485Arg
XM_005251334.4:c.1393_1394delinsAG (GNE)	XP_005251391.1:p.Val465Arg
XM_017014167.1:c.1453_1454delinsAG (GNE)	XP_016869656.1:p.Val485Arg
XM_017014168.1:c.1300_1301delinsAG (GNE)	XP_016869657.1:p.Val434Arg
NM_001128227.3:c.1546_1547delinsAG (GNE) MANE Plus Clinical	NP_001121699.1:p.Val516Arg
NM_001190383.3:c.1411+416_1411+417delinsAG (GNE)	NP_001177312.1:n.1411+416_1411+417delinsAG
NM_001190384.3:c.1123_1124delinsAG (GNE)	NP_001177313.1:p.Val375Arg
NM_001190388.2:c.1276_1277delinsAG (GNE)	NP_001177317.2:p.Val426Arg
NM_001374797.1:c.1300_1301delinsAG (GNE)	NP_001361726.1:p.Val434Arg
NM_001374798.1:c.1276_1277delinsAG (GNE)	NP_001361727.1:p.Val426Arg
NM_005476.7:c.1453_1454delinsAG (GNE) MANE Select	NP_005467.1:p.Val485Arg