Canonical Allele Identifier: CA10606772

Gene: GNE CLTA

Linked Data

• ClinVar Variation Id: 290423
• ClinVar RCV Id: RCV000593773 ; RCV000726482 ; RCV001850466
• dbSNP Id: rs886044449
• MyVariant Identifiers: chr9:g.36219965del (hg19) ; chr9:g.36219968del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36219968del , CM000671.2:g.36219968del	GRCh38
NC_000009.11:g.36219965del , CM000671.1:g.36219965del	GRCh37
NC_000009.10:g.36209965del	NCBI36
NG_008246.1:g.62077del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.1779del (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Cys594ValfsTer?
ENST00000543356.7:c.1509del (GNE)	ENSP00000437765.3:p.Cys504ValfsTer?
ENST00000642385.2:c.1686del (GNE) MANE Select	ENSP00000494141.2:p.Cys563ValfsTer?
ENST00000377902.5:c.1686del (GNE)	ENSP00000367134.4:p.Cys563ValfsTer?
ENST00000396594.7:c.1779del (GNE)	ENSP00000379839.3:p.Cys594ValfsTer?
ENST00000447283.6:c.1464del (GNE)	ENSP00000414760.2:p.Cys489ValfsTer?
ENST00000464497.5:c.485+15789del (CLTA)	ENSP00000419158.1:n.485+15789del
ENST00000539208.5:c.1356del (GNE)	ENSP00000445117.1:p.Cys453ValfsTer?
ENST00000539815.5:c.1686del (GNE)	ENSP00000439155.1:p.Cys563ValfsTer?
ENST00000543356.6:c.1671del (GNE)	ENSP00000437765.2:p.Cys558ValfsTer?
NM_001128227.2:c.1779del (GNE)	NP_001121699.1:p.Cys594ValfsTer?
NM_001190383.1:c.1464del (GNE)	NP_001177312.1:p.Cys489ValfsTer?
NM_001190384.1:c.1356del (GNE)	NP_001177313.1:p.Cys453ValfsTer?
NM_001190388.1:c.1671del (GNE)	NP_001177317.1:p.Cys558ValfsTer?
NM_005476.5:c.1686del (GNE)	NP_005467.1:p.Cys563ValfsTer?
XM_005251334.3:c.1626del (GNE)	XP_005251391.1:p.Cys543ValfsTer?
NM_001190383.2:c.1464del (GNE)	NP_001177312.1:p.Cys489ValfsTer?
NM_001190384.2:c.1356del (GNE)	NP_001177313.1:p.Cys453ValfsTer?
NM_005476.6:c.1686del (GNE)	NP_005467.1:p.Cys563ValfsTer?
XM_005251334.4:c.1626del (GNE)	XP_005251391.1:p.Cys543ValfsTer?
XM_017014167.1:c.1686del (GNE)	XP_016869656.1:p.Cys563ValfsTer?
XM_017014168.1:c.1533del (GNE)	XP_016869657.1:p.Cys512ValfsTer?
NM_001128227.3:c.1779del (GNE) MANE Plus Clinical	NP_001121699.1:p.Cys594ValfsTer?
NM_001190383.3:c.1464del (GNE)	NP_001177312.1:p.Cys489ValfsTer?
NM_001190384.3:c.1356del (GNE)	NP_001177313.1:p.Cys453ValfsTer?
NM_001190388.2:c.1509del (GNE)	NP_001177317.2:p.Cys504ValfsTer?
NM_001374797.1:c.1533del (GNE)	NP_001361726.1:p.Cys512ValfsTer?
NM_001374798.1:c.1509del (GNE)	NP_001361727.1:p.Cys504ValfsTer?
NM_005476.7:c.1686del (GNE) MANE Select	NP_005467.1:p.Cys563ValfsTer?