Canonical Allele Identifier: CA464495170

Gene: GNE CLTA

Linked Data

• COSMIC: COSM311501 ; COSM5664562 ; COSM5664563
• MyVariant Identifiers: chr9:g.36222812del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36222817del , CM000671.2:g.36222817del	GRCh38
NC_000009.11:g.36222814del , CM000671.1:g.36222814del	GRCh37
NC_000009.10:g.36212814del	NCBI36
NG_008246.1:g.59230del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.1688del (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Lys563ArgfsTer25
ENST00000543356.7:c.1418del (GNE)	ENSP00000437765.3:p.Lys473ArgfsTer25
ENST00000642385.2:c.1595del (GNE) MANE Select	ENSP00000494141.2:p.Lys532ArgfsTer25
ENST00000377902.5:c.1595del (GNE)	ENSP00000367134.4:p.Lys532ArgfsTer25
ENST00000396594.7:c.1688del (GNE)	ENSP00000379839.3:p.Lys563ArgfsTer25
ENST00000447283.6:c.1411+558del (GNE)	ENSP00000414760.2:n.1411+558del
ENST00000464497.5:c.485+18638del (CLTA)	ENSP00000419158.1:n.485+18638del
ENST00000539208.5:c.1265del (GNE)	ENSP00000445117.1:p.Lys422ArgfsTer25
ENST00000539815.5:c.1595del (GNE)	ENSP00000439155.1:p.Lys532ArgfsTer25
ENST00000543356.6:c.1580del (GNE)	ENSP00000437765.2:p.Lys527ArgfsTer25
NM_001128227.2:c.1688del (GNE)	NP_001121699.1:p.Lys563ArgfsTer25
NM_001190383.1:c.1411+558del (GNE)	NP_001177312.1:n.1411+558del
NM_001190384.1:c.1265del (GNE)	NP_001177313.1:p.Lys422ArgfsTer25
NM_001190388.1:c.1580del (GNE)	NP_001177317.1:p.Lys527ArgfsTer25
NM_005476.5:c.1595del (GNE)	NP_005467.1:p.Lys532ArgfsTer25
XM_005251334.3:c.1535del (GNE)	XP_005251391.1:p.Lys512ArgfsTer25
NM_001190383.2:c.1411+558del (GNE)	NP_001177312.1:n.1411+558del
NM_001190384.2:c.1265del (GNE)	NP_001177313.1:p.Lys422ArgfsTer25
NM_005476.6:c.1595del (GNE)	NP_005467.1:p.Lys532ArgfsTer25
XM_005251334.4:c.1535del (GNE)	XP_005251391.1:p.Lys512ArgfsTer25
XM_017014167.1:c.1595del (GNE)	XP_016869656.1:p.Lys532ArgfsTer25
XM_017014168.1:c.1442del (GNE)	XP_016869657.1:p.Lys481ArgfsTer25
NM_001128227.3:c.1688del (GNE) MANE Plus Clinical	NP_001121699.1:p.Lys563ArgfsTer25
NM_001190383.3:c.1411+558del (GNE)	NP_001177312.1:n.1411+558del
NM_001190384.3:c.1265del (GNE)	NP_001177313.1:p.Lys422ArgfsTer25
NM_001190388.2:c.1418del (GNE)	NP_001177317.2:p.Lys473ArgfsTer25
NM_001374797.1:c.1442del (GNE)	NP_001361726.1:p.Lys481ArgfsTer25
NM_001374798.1:c.1418del (GNE)	NP_001361727.1:p.Lys473ArgfsTer25
NM_005476.7:c.1595del (GNE) MANE Select	NP_005467.1:p.Lys532ArgfsTer25