Canonical Allele Identifier: CA1846321186

Gene: GNE CLTA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36246461_36246465delinsTTCAA , CM000671.2:g.36246461_36246465delinsTTCAA	GRCh38
NC_000009.11:g.36246458_36246462delinsTTCAA , CM000671.1:g.36246458_36246462delinsTTCAA	GRCh37
NC_000009.10:g.36236458_36236462delinsTTCAA	NCBI36
NG_008246.1:g.35580_35584delinsTTGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.275_279delinsTTGAA (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Ile92=
ENST00000543356.7:c.5_9delinsTTGAA (GNE)	ENSP00000437765.3:p.Ile2=
ENST00000642385.2:c.182_186delinsTTGAA (GNE) MANE Select	ENSP00000494141.2:p.Ile61=
ENST00000377902.5:c.182_186delinsTTGAA (GNE)	ENSP00000367134.4:p.Ile61=
ENST00000396594.7:c.275_279delinsTTGAA (GNE)	ENSP00000379839.3:p.Ile92=
ENST00000447283.6:c.182_186delinsTTGAA (GNE)	ENSP00000414760.2:p.Ile61=
ENST00000464497.5:c.486-16737_486-16733delinsTTCAA (CLTA)	ENSP00000419158.1:n.486-16737_486-16733delinsTTCAA
ENST00000539208.5:c.5_9delinsTTGAA (GNE)	ENSP00000445117.1:p.Ile2=
ENST00000539815.5:c.182_186delinsTTGAA (GNE)	ENSP00000439155.1:p.Ile61=
ENST00000543356.6:c.167_171delinsTTGAA (GNE)	ENSP00000437765.2:p.Ile56=
NM_001128227.2:c.275_279delinsTTGAA (GNE)	NP_001121699.1:p.Ile92=
NM_001190383.1:c.182_186delinsTTGAA (GNE)	NP_001177312.1:p.Ile61=
NM_001190384.1:c.5_9delinsTTGAA (GNE)	NP_001177313.1:p.Ile2=
NM_001190388.1:c.167_171delinsTTGAA (GNE)	NP_001177317.1:p.Ile56=
NM_005476.5:c.182_186delinsTTGAA (GNE)	NP_005467.1:p.Ile61=
XM_005251334.3:c.275_279delinsTTGAA (GNE)	XP_005251391.1:p.Ile92=
NM_001190383.2:c.182_186delinsTTGAA (GNE)	NP_001177312.1:p.Ile61=
NM_001190384.2:c.5_9delinsTTGAA (GNE)	NP_001177313.1:p.Ile2=
NM_005476.6:c.182_186delinsTTGAA (GNE)	NP_005467.1:p.Ile61=
XM_005251334.4:c.275_279delinsTTGAA (GNE)	XP_005251391.1:p.Ile92=
XM_017014167.1:c.182_186delinsTTGAA (GNE)	XP_016869656.1:p.Ile61=
XM_017014168.1:c.182_186delinsTTGAA (GNE)	XP_016869657.1:p.Ile61=
NM_001128227.3:c.275_279delinsTTGAA (GNE) MANE Plus Clinical	NP_001121699.1:p.Ile92=
NM_001190383.3:c.182_186delinsTTGAA (GNE)	NP_001177312.1:p.Ile61=
NM_001190384.3:c.5_9delinsTTGAA (GNE)	NP_001177313.1:p.Ile2=
NM_001190388.2:c.5_9delinsTTGAA (GNE)	NP_001177317.2:p.Ile2=
NM_001374797.1:c.182_186delinsTTGAA (GNE)	NP_001361726.1:p.Ile61=
NM_001374798.1:c.5_9delinsTTGAA (GNE)	NP_001361727.1:p.Ile2=
NM_005476.7:c.182_186delinsTTGAA (GNE) MANE Select	NP_005467.1:p.Ile61=