Canonical Allele Identifier: CA658797203

Gene: GNE CLTA

Linked Data

• ClinVar Variation Id: 524125
• ClinVar RCV Id: RCV000627621 ; RCV001274365 ; RCV001860491
• dbSNP Id: rs1554661549
• MyVariant Identifiers: chr9:g.36236904del (hg19) ; chr9:g.36236907del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36236911del , CM000671.2:g.36236911del	GRCh38
NC_000009.11:g.36236908del , CM000671.1:g.36236908del	GRCh37
NC_000009.10:g.36226908del	NCBI36
NG_008246.1:g.45138del

Transcript Alleles

HGVS	Amino-acid change
ENST00000396594.8:c.787del (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Met263CysfsTer4
ENST00000543356.7:c.517del (GNE)	ENSP00000437765.3:p.Met173CysfsTer4
ENST00000642385.2:c.694del (GNE) MANE Select	ENSP00000494141.2:p.Met232CysfsTer4
ENST00000377902.5:c.694del (GNE)	ENSP00000367134.4:p.Met232CysfsTer4
ENST00000396594.7:c.787del (GNE)	ENSP00000379839.3:p.Met263CysfsTer4
ENST00000447283.6:c.694del (GNE)	ENSP00000414760.2:p.Met232CysfsTer4
ENST00000464497.5:c.486-26287del (CLTA)	ENSP00000419158.1:n.486-26287del
ENST00000539208.5:c.440-2775del (GNE)	ENSP00000445117.1:n.440-2775del
ENST00000539815.5:c.694del (GNE)	ENSP00000439155.1:p.Met232CysfsTer4
ENST00000543356.6:c.679del (GNE)	ENSP00000437765.2:p.Met227CysfsTer4
NM_001128227.2:c.787del (GNE)	NP_001121699.1:p.Met263CysfsTer4
NM_001190383.1:c.694del (GNE)	NP_001177312.1:p.Met232CysfsTer4
NM_001190384.1:c.440-2775del (GNE)	NP_001177313.1:n.440-2775del
NM_001190388.1:c.679del (GNE)	NP_001177317.1:p.Met227CysfsTer4
NM_005476.5:c.694del (GNE)	NP_005467.1:p.Met232CysfsTer4
XM_005251334.3:c.710-2775del (GNE)	XP_005251391.1:n.710-2775del
NM_001190383.2:c.694del (GNE)	NP_001177312.1:p.Met232CysfsTer4
NM_001190384.2:c.440-2775del (GNE)	NP_001177313.1:n.440-2775del
NM_005476.6:c.694del (GNE)	NP_005467.1:p.Met232CysfsTer4
XM_005251334.4:c.710-2775del (GNE)	XP_005251391.1:n.710-2775del
XM_017014167.1:c.694del (GNE)	XP_016869656.1:p.Met232CysfsTer4
XM_017014168.1:c.617-2775del (GNE)	XP_016869657.1:n.617-2775del
NM_001128227.3:c.787del (GNE) MANE Plus Clinical	NP_001121699.1:p.Met263CysfsTer4
NM_001190383.3:c.694del (GNE)	NP_001177312.1:p.Met232CysfsTer4
NM_001190384.3:c.440-2775del (GNE)	NP_001177313.1:n.440-2775del
NM_001190388.2:c.517del (GNE)	NP_001177317.2:p.Met173CysfsTer4
NM_001374797.1:c.617-2775del (GNE)	NP_001361726.1:n.617-2775del
NM_001374798.1:c.517del (GNE)	NP_001361727.1:p.Met173CysfsTer4
NM_005476.7:c.694del (GNE) MANE Select	NP_005467.1:p.Met232CysfsTer4