Canonical Allele Identifier: CA2580080486

Gene: GNE CLTA

Linked Data

• ClinVar Variation Id: 2108109
• ClinVar RCV Id: RCV003029384

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36217399del , CM000671.2:g.36217399del	GRCh38
NC_000009.11:g.36217396del , CM000671.1:g.36217396del	GRCh37
NC_000009.10:g.36207396del	NCBI36
NG_008246.1:g.64646del

Transcript Alleles

HGVS	Amino-acid change
ENST00000396594.8:c.2228del (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Met743ArgfsTer?
ENST00000543356.7:c.1958del (GNE)	ENSP00000437765.3:p.Met653ArgfsTer?
ENST00000642385.2:c.2135del (GNE) MANE Select	ENSP00000494141.2:p.Met712ArgfsTer?
ENST00000377902.5:c.2135del (GNE)	ENSP00000367134.4:p.Met712ArgfsTer?
ENST00000396594.7:c.2228del (GNE)	ENSP00000379839.3:p.Met743ArgfsTer?
ENST00000447283.6:c.1913del (GNE)	ENSP00000414760.2:p.Met638ArgfsTer?
ENST00000464497.5:c.485+13220del (CLTA)	ENSP00000419158.1:n.485+13220del
ENST00000539208.5:c.1805del (GNE)	ENSP00000445117.1:p.Met602ArgfsTer?
ENST00000539815.5:c.2135del (GNE)	ENSP00000439155.1:p.Met712ArgfsTer?
ENST00000543356.6:c.2120del (GNE)	ENSP00000437765.2:p.Met707ArgfsTer?
NM_001128227.2:c.2228del (GNE)	NP_001121699.1:p.Met743ArgfsTer?
NM_001190383.1:c.1913del (GNE)	NP_001177312.1:p.Met638ArgfsTer?
NM_001190384.1:c.1805del (GNE)	NP_001177313.1:p.Met602ArgfsTer?
NM_001190388.1:c.2120del (GNE)	NP_001177317.1:p.Met707ArgfsTer?
NM_005476.5:c.2135del (GNE)	NP_005467.1:p.Met712ArgfsTer?
XM_005251334.3:c.2075del (GNE)	XP_005251391.1:p.Met692ArgfsTer?
NM_001190383.2:c.1913del (GNE)	NP_001177312.1:p.Met638ArgfsTer?
NM_001190384.2:c.1805del (GNE)	NP_001177313.1:p.Met602ArgfsTer?
NM_005476.6:c.2135del (GNE)	NP_005467.1:p.Met712ArgfsTer?
XM_005251334.4:c.2075del (GNE)	XP_005251391.1:p.Met692ArgfsTer?
XM_017014167.1:c.2135del (GNE)	XP_016869656.1:p.Met712ArgfsTer?
XM_017014168.1:c.1982del (GNE)	XP_016869657.1:p.Met661ArgfsTer?
NM_001128227.3:c.2228del (GNE) MANE Plus Clinical	NP_001121699.1:p.Met743ArgfsTer?
NM_001190383.3:c.1913del (GNE)	NP_001177312.1:p.Met638ArgfsTer?
NM_001190384.3:c.1805del (GNE)	NP_001177313.1:p.Met602ArgfsTer?
NM_001190388.2:c.1958del (GNE)	NP_001177317.2:p.Met653ArgfsTer?
NM_001374797.1:c.1982del (GNE)	NP_001361726.1:p.Met661ArgfsTer?
NM_001374798.1:c.1958del (GNE)	NP_001361727.1:p.Met653ArgfsTer?
NM_005476.7:c.2135del (GNE) MANE Select	NP_005467.1:p.Met712ArgfsTer?