Canonical Allele Identifier: CA2740095486

Gene: GNE CLTA

Linked Data

• ClinVar Variation Id: 2945109
• ClinVar RCV Id: RCV003800763

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36246096_36246109del , CM000671.2:g.36246096_36246109del	GRCh38
NC_000009.11:g.36246093_36246106del , CM000671.1:g.36246093_36246106del	GRCh37
NC_000009.10:g.36236093_36236106del	NCBI36
NG_008246.1:g.35938_35951del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.633_646del (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Leu211PhefsTer3
ENST00000543356.7:c.363_376del (GNE)	ENSP00000437765.3:p.Leu121PhefsTer3
ENST00000642385.2:c.540_553del (GNE) MANE Select	ENSP00000494141.2:p.Leu180PhefsTer3
ENST00000377902.5:c.540_553del (GNE)	ENSP00000367134.4:p.Leu180PhefsTer3
ENST00000396594.7:c.633_646del (GNE)	ENSP00000379839.3:p.Leu211PhefsTer3
ENST00000447283.6:c.540_553del (GNE)	ENSP00000414760.2:p.Leu180PhefsTer3
ENST00000464497.5:c.486-17102_486-17089del (CLTA)	ENSP00000419158.1:n.486-17102_486-17089del
ENST00000539208.5:c.363_376del (GNE)	ENSP00000445117.1:p.Leu121PhefsTer3
ENST00000539815.5:c.540_553del (GNE)	ENSP00000439155.1:p.Leu180PhefsTer3
ENST00000543356.6:c.525_538del (GNE)	ENSP00000437765.2:p.Leu175PhefsTer3
NM_001128227.2:c.633_646del (GNE)	NP_001121699.1:p.Leu211PhefsTer3
NM_001190383.1:c.540_553del (GNE)	NP_001177312.1:p.Leu180PhefsTer3
NM_001190384.1:c.363_376del (GNE)	NP_001177313.1:p.Leu121PhefsTer3
NM_001190388.1:c.525_538del (GNE)	NP_001177317.1:p.Leu175PhefsTer3
NM_005476.5:c.540_553del (GNE)	NP_005467.1:p.Leu180PhefsTer3
XM_005251334.3:c.633_646del (GNE)	XP_005251391.1:p.Leu211PhefsTer3
NM_001190383.2:c.540_553del (GNE)	NP_001177312.1:p.Leu180PhefsTer3
NM_001190384.2:c.363_376del (GNE)	NP_001177313.1:p.Leu121PhefsTer3
NM_005476.6:c.540_553del (GNE)	NP_005467.1:p.Leu180PhefsTer3
XM_005251334.4:c.633_646del (GNE)	XP_005251391.1:p.Leu211PhefsTer3
XM_017014167.1:c.540_553del (GNE)	XP_016869656.1:p.Leu180PhefsTer3
XM_017014168.1:c.540_553del (GNE)	XP_016869657.1:p.Leu180PhefsTer3
NM_001128227.3:c.633_646del (GNE) MANE Plus Clinical	NP_001121699.1:p.Leu211PhefsTer3
NM_001190383.3:c.540_553del (GNE)	NP_001177312.1:p.Leu180PhefsTer3
NM_001190384.3:c.363_376del (GNE)	NP_001177313.1:p.Leu121PhefsTer3
NM_001190388.2:c.363_376del (GNE)	NP_001177317.2:p.Leu121PhefsTer3
NM_001374797.1:c.540_553del (GNE)	NP_001361726.1:p.Leu180PhefsTer3
NM_001374798.1:c.363_376del (GNE)	NP_001361727.1:p.Leu121PhefsTer3
NM_005476.7:c.540_553del (GNE) MANE Select	NP_005467.1:p.Leu180PhefsTer3