Canonical Allele Identifier: CA2538158886

Gene: GNE CLTA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36223366_36223367insCTGTCTAATATTTCCTTGCAG , CM000671.2:g.36223366_36223367insCTGTCTAATATTTCCTTGCAG	GRCh38
NC_000009.11:g.36223363_36223364insCTGTCTAATATTTCCTTGCAG , CM000671.1:g.36223363_36223364insCTGTCTAATATTTCCTTGCAG	GRCh37
NC_000009.10:g.36213363_36213364insCTGTCTAATATTTCCTTGCAG	NCBI36
NG_008246.1:g.58678_58679insCTGCAAGGAAATATTAGACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.1504+6_1504+7insCTGCAAGGAAATATTAGACAG (GNE) MANE Plus Clinical	ENSP00000379839.3:n.1504+6_1504+7insCTGCAAGGAAATATTAGACAG
ENST00000543356.7:c.1234+6_1234+7insCTGCAAGGAAATATTAGACAG (GNE)	ENSP00000437765.3:n.1234+6_1234+7insCTGCAAGGAAATATTAGACAG
ENST00000642385.2:c.1411+6_1411+7insCTGCAAGGAAATATTAGACAG (GNE) MANE Select	ENSP00000494141.2:n.1411+6_1411+7insCTGCAAGGAAATATTAGACAG
ENST00000377902.5:c.1411+6_1411+7insCTGCAAGGAAATATTAGACAG (GNE)	ENSP00000367134.4:n.1411+6_1411+7insCTGCAAGGAAATATTAGACAG
ENST00000396594.7:c.1504+6_1504+7insCTGCAAGGAAATATTAGACAG (GNE)	ENSP00000379839.3:n.1504+6_1504+7insCTGCAAGGAAATATTAGACAG
ENST00000447283.6:c.1411+6_1411+7insCTGCAAGGAAATATTAGACAG (GNE)	ENSP00000414760.2:n.1411+6_1411+7insCTGCAAGGAAATATTAGACAG
ENST00000464497.5:c.485+19187_485+19188insCTGTCTAATATTTCCTTGCAG (CLTA)	ENSP00000419158.1:n.485+19187_485+19188insCTGTCTAATATTTCCTTGC...
ENST00000539208.5:c.1081+6_1081+7insCTGCAAGGAAATATTAGACAG (GNE)	ENSP00000445117.1:n.1081+6_1081+7insCTGCAAGGAAATATTAGACAG
ENST00000539815.5:c.1411+6_1411+7insCTGCAAGGAAATATTAGACAG (GNE)	ENSP00000439155.1:n.1411+6_1411+7insCTGCAAGGAAATATTAGACAG
ENST00000543356.6:c.1396+6_1396+7insCTGCAAGGAAATATTAGACAG (GNE)	ENSP00000437765.2:n.1396+6_1396+7insCTGCAAGGAAATATTAGACAG
NM_001128227.2:c.1504+6_1504+7insCTGCAAGGAAATATTAGACAG (GNE)	NP_001121699.1:n.1504+6_1504+7insCTGCAAGGAAATATTAGACAG
NM_001190383.1:c.1411+6_1411+7insCTGCAAGGAAATATTAGACAG (GNE)	NP_001177312.1:n.1411+6_1411+7insCTGCAAGGAAATATTAGACAG
NM_001190384.1:c.1081+6_1081+7insCTGCAAGGAAATATTAGACAG (GNE)	NP_001177313.1:n.1081+6_1081+7insCTGCAAGGAAATATTAGACAG
NM_001190388.1:c.1396+6_1396+7insCTGCAAGGAAATATTAGACAG (GNE)	NP_001177317.1:n.1396+6_1396+7insCTGCAAGGAAATATTAGACAG
NM_005476.5:c.1411+6_1411+7insCTGCAAGGAAATATTAGACAG (GNE)	NP_005467.1:n.1411+6_1411+7insCTGCAAGGAAATATTAGACAG
XM_005251334.3:c.1351+6_1351+7insCTGCAAGGAAATATTAGACAG (GNE)	XP_005251391.1:n.1351+6_1351+7insCTGCAAGGAAATATTAGACAG
NM_001190383.2:c.1411+6_1411+7insCTGCAAGGAAATATTAGACAG (GNE)	NP_001177312.1:n.1411+6_1411+7insCTGCAAGGAAATATTAGACAG
NM_001190384.2:c.1081+6_1081+7insCTGCAAGGAAATATTAGACAG (GNE)	NP_001177313.1:n.1081+6_1081+7insCTGCAAGGAAATATTAGACAG
NM_005476.6:c.1411+6_1411+7insCTGCAAGGAAATATTAGACAG (GNE)	NP_005467.1:n.1411+6_1411+7insCTGCAAGGAAATATTAGACAG
XM_005251334.4:c.1351+6_1351+7insCTGCAAGGAAATATTAGACAG (GNE)	XP_005251391.1:n.1351+6_1351+7insCTGCAAGGAAATATTAGACAG
XM_017014167.1:c.1411+6_1411+7insCTGCAAGGAAATATTAGACAG (GNE)	XP_016869656.1:n.1411+6_1411+7insCTGCAAGGAAATATTAGACAG
XM_017014168.1:c.1258+6_1258+7insCTGCAAGGAAATATTAGACAG (GNE)	XP_016869657.1:n.1258+6_1258+7insCTGCAAGGAAATATTAGACAG
NM_001128227.3:c.1504+6_1504+7insCTGCAAGGAAATATTAGACAG (GNE) MANE Plus Clinical	NP_001121699.1:n.1504+6_1504+7insCTGCAAGGAAATATTAGACAG
NM_001190383.3:c.1411+6_1411+7insCTGCAAGGAAATATTAGACAG (GNE)	NP_001177312.1:n.1411+6_1411+7insCTGCAAGGAAATATTAGACAG
NM_001190384.3:c.1081+6_1081+7insCTGCAAGGAAATATTAGACAG (GNE)	NP_001177313.1:n.1081+6_1081+7insCTGCAAGGAAATATTAGACAG
NM_001190388.2:c.1234+6_1234+7insCTGCAAGGAAATATTAGACAG (GNE)	NP_001177317.2:n.1234+6_1234+7insCTGCAAGGAAATATTAGACAG
NM_001374797.1:c.1258+6_1258+7insCTGCAAGGAAATATTAGACAG (GNE)	NP_001361726.1:n.1258+6_1258+7insCTGCAAGGAAATATTAGACAG
NM_001374798.1:c.1234+6_1234+7insCTGCAAGGAAATATTAGACAG (GNE)	NP_001361727.1:n.1234+6_1234+7insCTGCAAGGAAATATTAGACAG
NM_005476.7:c.1411+6_1411+7insCTGCAAGGAAATATTAGACAG (GNE) MANE Select	NP_005467.1:n.1411+6_1411+7insCTGCAAGGAAATATTAGACAG