Canonical Allele Identifier: CA16041315
Gene: GNE HGNC NCBI
CLTA HGNC NCBI

Linked Data

ClinVar Variation Id: 370707
ClinVar RCV Id: RCV000411568
dbSNP Id: rs1057516705
MyVariant Identifiers: chr9:g.36223498del (hg19) chr9:g.36223501del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.36223503del , CM000671.2:g.36223503del GRCh38
NC_000009.11:g.36223500del , CM000671.1:g.36223500del GRCh37
NC_000009.10:g.36213500del NCBI36
NG_008246.1:g.58544del

Transcript Alleles

HGVS Amino-acid change
ENST00000396594.8:c.1376del (GNE)
ENST00000543356.7:c.1106del (GNE)
ENST00000642385.2:c.1283del (GNE)
ENST00000377902.5:c.1283del (GNE)
ENST00000396594.7:c.1376del (GNE)
ENST00000447283.6:c.1283del (GNE)
ENST00000464497.5:c.485+19324del (CLTA) ENSP00000419158.1:n.485+19324del
ENST00000539208.5:c.953del (GNE)
ENST00000539815.5:c.1283del (GNE)
ENST00000543356.6:c.1268del (GNE)
NM_001128227.2:c.1376del (GNE)
NM_001190383.1:c.1283del (GNE)
NM_001190384.1:c.953del (GNE)
NM_001190388.1:c.1268del (GNE)
NM_005476.5:c.1283del (GNE)
XM_005251334.3:c.1223del (GNE)
NM_001190383.2:c.1283del (GNE)
NM_001190384.2:c.953del (GNE)
NM_005476.6:c.1283del (GNE)
XM_005251334.4:c.1223del (GNE)
XM_017014167.1:c.1283del (GNE)
XM_017014168.1:c.1130del (GNE)
NM_001128227.3:c.1376del (GNE)
NM_001190383.3:c.1283del (GNE)
NM_001190384.3:c.953del (GNE)
NM_001190388.2:c.1106del (GNE)
NM_001374797.1:c.1130del (GNE)
NM_001374798.1:c.1106del (GNE)
NM_005476.7:c.1283del (GNE)
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