Canonical Allele Identifier: CA658822302

Gene: GNE CLTA

Linked Data

• ClinVar Variation Id: 553323
• ClinVar RCV Id: RCV000668742 ; RCV000732769
• dbSNP Id: rs1554663295
• gnomAD v4: 9-36246029-AC-A
• MyVariant Identifiers: chr9:g.36246030del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36246031del , CM000671.2:g.36246031del	GRCh38
NC_000009.11:g.36246028del , CM000671.1:g.36246028del	GRCh37
NC_000009.10:g.36236028del	NCBI36
NG_008246.1:g.36015del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.709+1del (GNE)
ENST00000543356.7:c.439+1del (GNE)
ENST00000642385.2:c.616+1del (GNE)
ENST00000377902.5:c.616+1del (GNE)
ENST00000396594.7:c.709+1del (GNE)
ENST00000447283.6:c.616+1del (GNE)
ENST00000464497.5:c.486-17167del (CLTA)	ENSP00000419158.1:n.486-17167del
ENST00000539208.5:c.439+1del (GNE)
ENST00000539815.5:c.616+1del (GNE)
ENST00000543356.6:c.601+1del (GNE)
NM_001128227.2:c.709+1del (GNE)
NM_001190383.1:c.616+1del (GNE)
NM_001190384.1:c.439+1del (GNE)
NM_001190388.1:c.601+1del (GNE)
NM_005476.5:c.616+1del (GNE)
XM_005251334.3:c.709+1del (GNE)
NM_001190383.2:c.616+1del (GNE)
NM_001190384.2:c.439+1del (GNE)
NM_005476.6:c.616+1del (GNE)
XM_005251334.4:c.709+1del (GNE)
XM_017014167.1:c.616+1del (GNE)
XM_017014168.1:c.616+1del (GNE)
NM_001128227.3:c.709+1del (GNE)
NM_001190383.3:c.616+1del (GNE)
NM_001190384.3:c.439+1del (GNE)
NM_001190388.2:c.439+1del (GNE)
NM_001374797.1:c.616+1del (GNE)
NM_001374798.1:c.439+1del (GNE)
NM_005476.7:c.616+1del (GNE)