Canonical Allele Identifier: CA2695206256

Gene: GNE CLTA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36222866_36222869del , CM000671.2:g.36222866_36222869del	GRCh38
NC_000009.11:g.36222863_36222866del , CM000671.1:g.36222863_36222866del	GRCh37
NC_000009.10:g.36212863_36212866del	NCBI36
NG_008246.1:g.59176_59179del

Transcript Alleles

HGVS	Amino-acid change
ENST00000396594.8:c.1634_1637del (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Val545AlafsTer?
ENST00000543356.7:c.1364_1367del (GNE)	ENSP00000437765.3:p.Val455AlafsTer?
ENST00000642385.2:c.1541_1544del (GNE) MANE Select	ENSP00000494141.2:p.Val514AlafsTer?
ENST00000377902.5:c.1541_1544del (GNE)	ENSP00000367134.4:p.Val514AlafsTer?
ENST00000396594.7:c.1634_1637del (GNE)	ENSP00000379839.3:p.Val545AlafsTer?
ENST00000447283.6:c.1411+504_1411+507del (GNE)	ENSP00000414760.2:n.1411+504_1411+507del
ENST00000464497.5:c.485+18687_485+18690del (CLTA)	ENSP00000419158.1:n.485+18687_485+18690de...
ENST00000539208.5:c.1211_1214del (GNE)	ENSP00000445117.1:p.Val404AlafsTer?
ENST00000539815.5:c.1541_1544del (GNE)	ENSP00000439155.1:p.Val514AlafsTer?
ENST00000543356.6:c.1526_1529del (GNE)	ENSP00000437765.2:p.Val509AlafsTer?
NM_001128227.2:c.1634_1637del (GNE)	NP_001121699.1:p.Val545AlafsTer?
NM_001190383.1:c.1411+504_1411+507del (GNE)	NP_001177312.1:n.1411+504_1411+507del
NM_001190384.1:c.1211_1214del (GNE)	NP_001177313.1:p.Val404AlafsTer?
NM_001190388.1:c.1526_1529del (GNE)	NP_001177317.1:p.Val509AlafsTer?
NM_005476.5:c.1541_1544del (GNE)	NP_005467.1:p.Val514AlafsTer?
XM_005251334.3:c.1481_1484del (GNE)	XP_005251391.1:p.Val494AlafsTer?
NM_001190383.2:c.1411+504_1411+507del (GNE)	NP_001177312.1:n.1411+504_1411+507del
NM_001190384.2:c.1211_1214del (GNE)	NP_001177313.1:p.Val404AlafsTer?
NM_005476.6:c.1541_1544del (GNE)	NP_005467.1:p.Val514AlafsTer?
XM_005251334.4:c.1481_1484del (GNE)	XP_005251391.1:p.Val494AlafsTer?
XM_017014167.1:c.1541_1544del (GNE)	XP_016869656.1:p.Val514AlafsTer?
XM_017014168.1:c.1388_1391del (GNE)	XP_016869657.1:p.Val463AlafsTer?
NM_001128227.3:c.1634_1637del (GNE) MANE Plus Clinical	NP_001121699.1:p.Val545AlafsTer?
NM_001190383.3:c.1411+504_1411+507del (GNE)	NP_001177312.1:n.1411+504_1411+507del
NM_001190384.3:c.1211_1214del (GNE)	NP_001177313.1:p.Val404AlafsTer?
NM_001190388.2:c.1364_1367del (GNE)	NP_001177317.2:p.Val455AlafsTer?
NM_001374797.1:c.1388_1391del (GNE)	NP_001361726.1:p.Val463AlafsTer?
NM_001374798.1:c.1364_1367del (GNE)	NP_001361727.1:p.Val455AlafsTer?
NM_005476.7:c.1541_1544del (GNE) MANE Select	NP_005467.1:p.Val514AlafsTer?