Canonical Allele Identifier: CA2509312939

Gene: GNE CLTA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36246089_36246090insGAAAATG , CM000671.2:g.36246089_36246090insGAAAATG	GRCh38
NC_000009.11:g.36246086_36246087insGAAAATG , CM000671.1:g.36246086_36246087insGAAAATG	GRCh37
NC_000009.10:g.36236086_36236087insGAAAATG	NCBI36
NG_008246.1:g.35955_35956insCATTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.650_651insCATTTTC (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Asp218IlefsTer3
ENST00000543356.7:c.380_381insCATTTTC (GNE)	ENSP00000437765.3:p.Asp128IlefsTer3
ENST00000642385.2:c.557_558insCATTTTC (GNE) MANE Select	ENSP00000494141.2:p.Asp187IlefsTer3
ENST00000377902.5:c.557_558insCATTTTC (GNE)	ENSP00000367134.4:p.Asp187IlefsTer3
ENST00000396594.7:c.650_651insCATTTTC (GNE)	ENSP00000379839.3:p.Asp218IlefsTer3
ENST00000447283.6:c.557_558insCATTTTC (GNE)	ENSP00000414760.2:p.Asp187IlefsTer3
ENST00000464497.5:c.486-17109_486-17108insGAAAATG (CLTA)	ENSP00000419158.1:n.486-17109_486-17108insGAAAATG
ENST00000539208.5:c.380_381insCATTTTC (GNE)	ENSP00000445117.1:p.Asp128IlefsTer3
ENST00000539815.5:c.557_558insCATTTTC (GNE)	ENSP00000439155.1:p.Asp187IlefsTer3
ENST00000543356.6:c.542_543insCATTTTC (GNE)	ENSP00000437765.2:p.Asp182IlefsTer3
NM_001128227.2:c.650_651insCATTTTC (GNE)	NP_001121699.1:p.Asp218IlefsTer3
NM_001190383.1:c.557_558insCATTTTC (GNE)	NP_001177312.1:p.Asp187IlefsTer3
NM_001190384.1:c.380_381insCATTTTC (GNE)	NP_001177313.1:p.Asp128IlefsTer3
NM_001190388.1:c.542_543insCATTTTC (GNE)	NP_001177317.1:p.Asp182IlefsTer3
NM_005476.5:c.557_558insCATTTTC (GNE)	NP_005467.1:p.Asp187IlefsTer3
XM_005251334.3:c.650_651insCATTTTC (GNE)	XP_005251391.1:p.Asp218IlefsTer3
NM_001190383.2:c.557_558insCATTTTC (GNE)	NP_001177312.1:p.Asp187IlefsTer3
NM_001190384.2:c.380_381insCATTTTC (GNE)	NP_001177313.1:p.Asp128IlefsTer3
NM_005476.6:c.557_558insCATTTTC (GNE)	NP_005467.1:p.Asp187IlefsTer3
XM_005251334.4:c.650_651insCATTTTC (GNE)	XP_005251391.1:p.Asp218IlefsTer3
XM_017014167.1:c.557_558insCATTTTC (GNE)	XP_016869656.1:p.Asp187IlefsTer3
XM_017014168.1:c.557_558insCATTTTC (GNE)	XP_016869657.1:p.Asp187IlefsTer3
NM_001128227.3:c.650_651insCATTTTC (GNE) MANE Plus Clinical	NP_001121699.1:p.Asp218IlefsTer3
NM_001190383.3:c.557_558insCATTTTC (GNE)	NP_001177312.1:p.Asp187IlefsTer3
NM_001190384.3:c.380_381insCATTTTC (GNE)	NP_001177313.1:p.Asp128IlefsTer3
NM_001190388.2:c.380_381insCATTTTC (GNE)	NP_001177317.2:p.Asp128IlefsTer3
NM_001374797.1:c.557_558insCATTTTC (GNE)	NP_001361726.1:p.Asp187IlefsTer3
NM_001374798.1:c.380_381insCATTTTC (GNE)	NP_001361727.1:p.Asp128IlefsTer3
NM_005476.7:c.557_558insCATTTTC (GNE) MANE Select	NP_005467.1:p.Asp187IlefsTer3