Canonical Allele Identifier: CA1846334214

Gene: GNE CLTA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36223319_36223320delinsTA , CM000671.2:g.36223319_36223320delinsTA	GRCh38
NC_000009.11:g.36223316_36223317delinsTA , CM000671.1:g.36223316_36223317delinsTA	GRCh37
NC_000009.10:g.36213316_36213317delinsTA	NCBI36
NG_008246.1:g.58725_58726delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.1504+53_1504+54delinsTA (GNE) MANE Plus Clinical	ENSP00000379839.3:n.1504+53_1504+54delinsTA
ENST00000543356.7:c.1234+53_1234+54delinsTA (GNE)	ENSP00000437765.3:n.1234+53_1234+54delinsTA
ENST00000642385.2:c.1411+53_1411+54delinsTA (GNE) MANE Select	ENSP00000494141.2:n.1411+53_1411+54delinsTA
ENST00000377902.5:c.1411+53_1411+54delinsTA (GNE)	ENSP00000367134.4:n.1411+53_1411+54delinsTA
ENST00000396594.7:c.1504+53_1504+54delinsTA (GNE)	ENSP00000379839.3:n.1504+53_1504+54delinsTA
ENST00000447283.6:c.1411+53_1411+54delinsTA (GNE)	ENSP00000414760.2:n.1411+53_1411+54delinsTA
ENST00000464497.5:c.485+19140_485+19141delinsTA (CLTA)	ENSP00000419158.1:n.485+19140_485+19141delinsTA
ENST00000539208.5:c.1081+53_1081+54delinsTA (GNE)	ENSP00000445117.1:n.1081+53_1081+54delinsTA
ENST00000539815.5:c.1411+53_1411+54delinsTA (GNE)	ENSP00000439155.1:n.1411+53_1411+54delinsTA
ENST00000543356.6:c.1396+53_1396+54delinsTA (GNE)	ENSP00000437765.2:n.1396+53_1396+54delinsTA
NM_001128227.2:c.1504+53_1504+54delinsTA (GNE)	NP_001121699.1:n.1504+53_1504+54delinsTA
NM_001190383.1:c.1411+53_1411+54delinsTA (GNE)	NP_001177312.1:n.1411+53_1411+54delinsTA
NM_001190384.1:c.1081+53_1081+54delinsTA (GNE)	NP_001177313.1:n.1081+53_1081+54delinsTA
NM_001190388.1:c.1396+53_1396+54delinsTA (GNE)	NP_001177317.1:n.1396+53_1396+54delinsTA
NM_005476.5:c.1411+53_1411+54delinsTA (GNE)	NP_005467.1:n.1411+53_1411+54delinsTA
XM_005251334.3:c.1351+53_1351+54delinsTA (GNE)	XP_005251391.1:n.1351+53_1351+54delinsTA
NM_001190383.2:c.1411+53_1411+54delinsTA (GNE)	NP_001177312.1:n.1411+53_1411+54delinsTA
NM_001190384.2:c.1081+53_1081+54delinsTA (GNE)	NP_001177313.1:n.1081+53_1081+54delinsTA
NM_005476.6:c.1411+53_1411+54delinsTA (GNE)	NP_005467.1:n.1411+53_1411+54delinsTA
XM_005251334.4:c.1351+53_1351+54delinsTA (GNE)	XP_005251391.1:n.1351+53_1351+54delinsTA
XM_017014167.1:c.1411+53_1411+54delinsTA (GNE)	XP_016869656.1:n.1411+53_1411+54delinsTA
XM_017014168.1:c.1258+53_1258+54delinsTA (GNE)	XP_016869657.1:n.1258+53_1258+54delinsTA
NM_001128227.3:c.1504+53_1504+54delinsTA (GNE) MANE Plus Clinical	NP_001121699.1:n.1504+53_1504+54delinsTA
NM_001190383.3:c.1411+53_1411+54delinsTA (GNE)	NP_001177312.1:n.1411+53_1411+54delinsTA
NM_001190384.3:c.1081+53_1081+54delinsTA (GNE)	NP_001177313.1:n.1081+53_1081+54delinsTA
NM_001190388.2:c.1234+53_1234+54delinsTA (GNE)	NP_001177317.2:n.1234+53_1234+54delinsTA
NM_001374797.1:c.1258+53_1258+54delinsTA (GNE)	NP_001361726.1:n.1258+53_1258+54delinsTA
NM_001374798.1:c.1234+53_1234+54delinsTA (GNE)	NP_001361727.1:n.1234+53_1234+54delinsTA
NM_005476.7:c.1411+53_1411+54delinsTA (GNE) MANE Select	NP_005467.1:n.1411+53_1411+54delinsTA