Canonical Allele Identifier: CA2499219902

Gene: GNE CLTA

Linked Data

• ClinVar Variation Id: 1069453
• ClinVar RCV Id: RCV001381320
• dbSNP Id: rs2133126724
• gnomAD v4: 9-36249386-AAAATAGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36249387_36249394del , CM000671.2:g.36249387_36249394del	GRCh38
NC_000009.11:g.36249384_36249391del , CM000671.1:g.36249384_36249391del	GRCh37
NC_000009.10:g.36239384_36239391del	NCBI36
NG_008246.1:g.32651_32658del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.55_62del (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Leu19Ter
ENST00000543356.7:c.-13-2912_-13-2905del (GNE)	ENSP00000437765.3:n.-13-2912_-13-2905del
ENST00000642385.2:c.-39_-32del (GNE) MANE Select	ENSP00000494141.2:n.-39_-32del
ENST00000377902.5:c.-39_-32del (GNE)	ENSP00000367134.4:n.-39_-32del
ENST00000396594.7:c.55_62del (GNE)	ENSP00000379839.3:p.Leu19Ter
ENST00000447283.6:c.-39_-32del (GNE)	ENSP00000414760.2:n.-39_-32del
ENST00000464497.5:c.486-13811_486-13804del (CLTA)	ENSP00000419158.1:n.486-13811_486-13804del
ENST00000539208.5:c.-13-2912_-13-2905del (GNE)	ENSP00000445117.1:n.-13-2912_-13-2905del
ENST00000539815.5:c.-39_-32del (GNE)	ENSP00000439155.1:n.-39_-32del
ENST00000543356.6:c.150-2912_150-2905del (GNE)	ENSP00000437765.2:n.150-2912_150-2905del
NM_001128227.2:c.55_62del (GNE)	NP_001121699.1:p.Leu19Ter
NM_001190383.1:c.-39_-32del (GNE)	NP_001177312.1:n.-39_-32del
NM_001190384.1:c.-13-2912_-13-2905del (GNE)	NP_001177313.1:n.-13-2912_-13-2905del
NM_001190388.1:c.150-2912_150-2905del (GNE)	NP_001177317.1:n.150-2912_150-2905del
NM_005476.5:c.-39_-32del (GNE)	NP_005467.1:n.-39_-32del
XM_005251334.3:c.55_62del (GNE)	XP_005251391.1:p.Leu19Ter
NM_001190383.2:c.-39_-32del (GNE)	NP_001177312.1:n.-39_-32del
NM_001190384.2:c.-13-2912_-13-2905del (GNE)	NP_001177313.1:n.-13-2912_-13-2905del
NM_005476.6:c.-39_-32del (GNE)	NP_005467.1:n.-39_-32del
XM_005251334.4:c.55_62del (GNE)	XP_005251391.1:p.Leu19Ter
XM_017014167.1:c.-39_-32del (GNE)	XP_016869656.1:n.-39_-32del
XM_017014168.1:c.-39_-32del (GNE)	XP_016869657.1:n.-39_-32del
NM_001128227.3:c.55_62del (GNE) MANE Plus Clinical	NP_001121699.1:p.Leu19Ter
NM_001190383.3:c.-39_-32del (GNE)	NP_001177312.1:n.-39_-32del
NM_001190384.3:c.-13-2912_-13-2905del (GNE)	NP_001177313.1:n.-13-2912_-13-2905del
NM_001190388.2:c.-13-2912_-13-2905del (GNE)	NP_001177317.2:n.-13-2912_-13-2905del
NM_001374797.1:c.-39_-32del (GNE)	NP_001361726.1:n.-39_-32del
NM_001374798.1:c.-13-2912_-13-2905del (GNE)	NP_001361727.1:n.-13-2912_-13-2905del
NM_005476.7:c.-39_-32del (GNE) MANE Select	NP_005467.1:n.-39_-32del