Canonical Allele Identifier: CA2573144642

Gene: GNE CLTA

Linked Data

• ClinVar Variation Id: 1452395
• ClinVar RCV Id: RCV001999788
• dbSNP Id: rs1554658924

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36222882_36222910del , CM000671.2:g.36222882_36222910del	GRCh38
NC_000009.11:g.36222879_36222907del , CM000671.1:g.36222879_36222907del	GRCh37
NC_000009.10:g.36212879_36212907del	NCBI36
NG_008246.1:g.59136_59164del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.1594_1622del (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Arg532ProfsTer7
ENST00000543356.7:c.1324_1352del (GNE)	ENSP00000437765.3:p.Arg442ProfsTer7
ENST00000642385.2:c.1501_1529del (GNE) MANE Select	ENSP00000494141.2:p.Arg501ProfsTer7
ENST00000377902.5:c.1501_1529del (GNE)	ENSP00000367134.4:p.Arg501ProfsTer7
ENST00000396594.7:c.1594_1622del (GNE)	ENSP00000379839.3:p.Arg532ProfsTer7
ENST00000447283.6:c.1411+464_1411+492del (GNE)	ENSP00000414760.2:n.1411+464_1411+492del
ENST00000464497.5:c.485+18703_485+18731del (CLTA)	ENSP00000419158.1:n.485+18703_485+18731del
ENST00000539208.5:c.1171_1199del (GNE)	ENSP00000445117.1:p.Arg391ProfsTer7
ENST00000539815.5:c.1501_1529del (GNE)	ENSP00000439155.1:p.Arg501ProfsTer7
ENST00000543356.6:c.1486_1514del (GNE)	ENSP00000437765.2:p.Arg496ProfsTer7
NM_001128227.2:c.1594_1622del (GNE)	NP_001121699.1:p.Arg532ProfsTer7
NM_001190383.1:c.1411+464_1411+492del (GNE)	NP_001177312.1:n.1411+464_1411+492del
NM_001190384.1:c.1171_1199del (GNE)	NP_001177313.1:p.Arg391ProfsTer7
NM_001190388.1:c.1486_1514del (GNE)	NP_001177317.1:p.Arg496ProfsTer7
NM_005476.5:c.1501_1529del (GNE)	NP_005467.1:p.Arg501ProfsTer7
XM_005251334.3:c.1441_1469del (GNE)	XP_005251391.1:p.Arg481ProfsTer7
NM_001190383.2:c.1411+464_1411+492del (GNE)	NP_001177312.1:n.1411+464_1411+492del
NM_001190384.2:c.1171_1199del (GNE)	NP_001177313.1:p.Arg391ProfsTer7
NM_005476.6:c.1501_1529del (GNE)	NP_005467.1:p.Arg501ProfsTer7
XM_005251334.4:c.1441_1469del (GNE)	XP_005251391.1:p.Arg481ProfsTer7
XM_017014167.1:c.1501_1529del (GNE)	XP_016869656.1:p.Arg501ProfsTer7
XM_017014168.1:c.1348_1376del (GNE)	XP_016869657.1:p.Arg450ProfsTer7
NM_001128227.3:c.1594_1622del (GNE) MANE Plus Clinical	NP_001121699.1:p.Arg532ProfsTer7
NM_001190383.3:c.1411+464_1411+492del (GNE)	NP_001177312.1:n.1411+464_1411+492del
NM_001190384.3:c.1171_1199del (GNE)	NP_001177313.1:p.Arg391ProfsTer7
NM_001190388.2:c.1324_1352del (GNE)	NP_001177317.2:p.Arg442ProfsTer7
NM_001374797.1:c.1348_1376del (GNE)	NP_001361726.1:p.Arg450ProfsTer7
NM_001374798.1:c.1324_1352del (GNE)	NP_001361727.1:p.Arg442ProfsTer7
NM_005476.7:c.1501_1529del (GNE) MANE Select	NP_005467.1:p.Arg501ProfsTer7