Canonical Allele Identifier: CA2579338370

Gene: GNE CLTA

Linked Data

• gnomAD v4: 9-36222876-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36222877_36222878del , CM000671.2:g.36222877_36222878del	GRCh38
NC_000009.11:g.36222874_36222875del , CM000671.1:g.36222874_36222875del	GRCh37
NC_000009.10:g.36212874_36212875del	NCBI36
NG_008246.1:g.59167_59168del

Transcript Alleles

HGVS	Amino-acid change
ENST00000396594.8:c.1625_1626del (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Pro542ArgfsTer6
ENST00000543356.7:c.1355_1356del (GNE)	ENSP00000437765.3:p.Pro452ArgfsTer6
ENST00000642385.2:c.1532_1533del (GNE) MANE Select	ENSP00000494141.2:p.Pro511ArgfsTer6
ENST00000377902.5:c.1532_1533del (GNE)	ENSP00000367134.4:p.Pro511ArgfsTer6
ENST00000396594.7:c.1625_1626del (GNE)	ENSP00000379839.3:p.Pro542ArgfsTer6
ENST00000447283.6:c.1411+495_1411+496del (GNE)	ENSP00000414760.2:n.1411+495_1411+496del
ENST00000464497.5:c.485+18698_485+18699del (CLTA)	ENSP00000419158.1:n.485+18698_485+18699de...
ENST00000539208.5:c.1202_1203del (GNE)	ENSP00000445117.1:p.Pro401ArgfsTer6
ENST00000539815.5:c.1532_1533del (GNE)	ENSP00000439155.1:p.Pro511ArgfsTer6
ENST00000543356.6:c.1517_1518del (GNE)	ENSP00000437765.2:p.Pro506ArgfsTer6
NM_001128227.2:c.1625_1626del (GNE)	NP_001121699.1:p.Pro542ArgfsTer6
NM_001190383.1:c.1411+495_1411+496del (GNE)	NP_001177312.1:n.1411+495_1411+496del
NM_001190384.1:c.1202_1203del (GNE)	NP_001177313.1:p.Pro401ArgfsTer6
NM_001190388.1:c.1517_1518del (GNE)	NP_001177317.1:p.Pro506ArgfsTer6
NM_005476.5:c.1532_1533del (GNE)	NP_005467.1:p.Pro511ArgfsTer6
XM_005251334.3:c.1472_1473del (GNE)	XP_005251391.1:p.Pro491ArgfsTer6
NM_001190383.2:c.1411+495_1411+496del (GNE)	NP_001177312.1:n.1411+495_1411+496del
NM_001190384.2:c.1202_1203del (GNE)	NP_001177313.1:p.Pro401ArgfsTer6
NM_005476.6:c.1532_1533del (GNE)	NP_005467.1:p.Pro511ArgfsTer6
XM_005251334.4:c.1472_1473del (GNE)	XP_005251391.1:p.Pro491ArgfsTer6
XM_017014167.1:c.1532_1533del (GNE)	XP_016869656.1:p.Pro511ArgfsTer6
XM_017014168.1:c.1379_1380del (GNE)	XP_016869657.1:p.Pro460ArgfsTer6
NM_001128227.3:c.1625_1626del (GNE) MANE Plus Clinical	NP_001121699.1:p.Pro542ArgfsTer6
NM_001190383.3:c.1411+495_1411+496del (GNE)	NP_001177312.1:n.1411+495_1411+496del
NM_001190384.3:c.1202_1203del (GNE)	NP_001177313.1:p.Pro401ArgfsTer6
NM_001190388.2:c.1355_1356del (GNE)	NP_001177317.2:p.Pro452ArgfsTer6
NM_001374797.1:c.1379_1380del (GNE)	NP_001361726.1:p.Pro460ArgfsTer6
NM_001374798.1:c.1355_1356del (GNE)	NP_001361727.1:p.Pro452ArgfsTer6
NM_005476.7:c.1532_1533del (GNE) MANE Select	NP_005467.1:p.Pro511ArgfsTer6