Canonical Allele Identifier: CA2579338612

Gene: GNE CLTA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36246241del , CM000671.2:g.36246241del	GRCh38
NC_000009.11:g.36246238del , CM000671.1:g.36246238del	GRCh37
NC_000009.10:g.36236238del	NCBI36
NG_008246.1:g.35807del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.502del (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Glu168LysfsTer14
ENST00000543356.7:c.232del (GNE)	ENSP00000437765.3:p.Glu78LysfsTer14
ENST00000642385.2:c.409del (GNE) MANE Select	ENSP00000494141.2:p.Glu137LysfsTer14
ENST00000377902.5:c.409del (GNE)	ENSP00000367134.4:p.Glu137LysfsTer14
ENST00000396594.7:c.502del (GNE)	ENSP00000379839.3:p.Glu168LysfsTer14
ENST00000447283.6:c.409del (GNE)	ENSP00000414760.2:p.Glu137LysfsTer14
ENST00000464497.5:c.486-16957del (CLTA)	ENSP00000419158.1:n.486-16957del
ENST00000539208.5:c.232del (GNE)	ENSP00000445117.1:p.Glu78LysfsTer14
ENST00000539815.5:c.409del (GNE)	ENSP00000439155.1:p.Glu137LysfsTer14
ENST00000543356.6:c.394del (GNE)	ENSP00000437765.2:p.Glu132LysfsTer14
NM_001128227.2:c.502del (GNE)	NP_001121699.1:p.Glu168LysfsTer14
NM_001190383.1:c.409del (GNE)	NP_001177312.1:p.Glu137LysfsTer14
NM_001190384.1:c.232del (GNE)	NP_001177313.1:p.Glu78LysfsTer14
NM_001190388.1:c.394del (GNE)	NP_001177317.1:p.Glu132LysfsTer14
NM_005476.5:c.409del (GNE)	NP_005467.1:p.Glu137LysfsTer14
XM_005251334.3:c.502del (GNE)	XP_005251391.1:p.Glu168LysfsTer14
NM_001190383.2:c.409del (GNE)	NP_001177312.1:p.Glu137LysfsTer14
NM_001190384.2:c.232del (GNE)	NP_001177313.1:p.Glu78LysfsTer14
NM_005476.6:c.409del (GNE)	NP_005467.1:p.Glu137LysfsTer14
XM_005251334.4:c.502del (GNE)	XP_005251391.1:p.Glu168LysfsTer14
XM_017014167.1:c.409del (GNE)	XP_016869656.1:p.Glu137LysfsTer14
XM_017014168.1:c.409del (GNE)	XP_016869657.1:p.Glu137LysfsTer14
NM_001128227.3:c.502del (GNE) MANE Plus Clinical	NP_001121699.1:p.Glu168LysfsTer14
NM_001190383.3:c.409del (GNE)	NP_001177312.1:p.Glu137LysfsTer14
NM_001190384.3:c.232del (GNE)	NP_001177313.1:p.Glu78LysfsTer14
NM_001190388.2:c.232del (GNE)	NP_001177317.2:p.Glu78LysfsTer14
NM_001374797.1:c.409del (GNE)	NP_001361726.1:p.Glu137LysfsTer14
NM_001374798.1:c.232del (GNE)	NP_001361727.1:p.Glu78LysfsTer14
NM_005476.7:c.409del (GNE) MANE Select	NP_005467.1:p.Glu137LysfsTer14