Canonical Allele Identifier: CA5056510

Gene: GNE CLTA

Linked Data

• ClinVar Variation Id: 2139462
• ClinVar RCV Id: RCV003052609
• dbSNP Id: rs754078940
• ExAC: 9:36223513 C / CAACCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCT
• gnomAD v2: 9-36223513-C-CAACCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCT
• gnomAD v3: 9-36223516-C-CAACCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCT
• gnomAD v4: 9-36223516-C-CAACCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCT
• MyVariant Identifiers: chr9:g.36223513_36223514insAACCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCT (hg19) ; chr9:g.36223516_36223517insAACCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36223519_36223520insCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAAC , CM000671.2:g.36223519_36223520insCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAAC	GRCh38
NC_000009.11:g.36223516_36223517insCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAAC , CM000671.1:g.36223516_36223517insCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAAC	GRCh37
NC_000009.10:g.36213516_36213517insCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAAC	NCBI36
NG_008246.1:g.58528_58529insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.1375-15_1375-14insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTT (GNE) MANE Plus Clinical	ENSP00000379839.3:n.1375-15_1375-14insAGCCAGGATGGTCTCGATCTCCT...
ENST00000543356.7:c.1105-15_1105-14insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTT (GNE)	ENSP00000437765.3:n.1105-15_1105-14insAGCCAGGATGGTCTCGATCTCCT...
ENST00000642385.2:c.1282-15_1282-14insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTT (GNE) MANE Select	ENSP00000494141.2:n.1282-15_1282-14insAGCCAGGATGGTCTCGATCTCCT...
ENST00000377902.5:c.1282-15_1282-14insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTT (GNE)	ENSP00000367134.4:n.1282-15_1282-14insAGCCAGGATGGTCTCGATCTCCT...
ENST00000396594.7:c.1375-15_1375-14insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTT (GNE)	ENSP00000379839.3:n.1375-15_1375-14insAGCCAGGATGGTCTCGATCTCCT...
ENST00000447283.6:c.1282-15_1282-14insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTT (GNE)	ENSP00000414760.2:n.1282-15_1282-14insAGCCAGGATGGTCTCGATCTCCT...
ENST00000464497.5:c.485+19340_485+19341insCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAAC (CLTA)	ENSP00000419158.1:n.485+19340_485+19341insCCGAGGCGGGTGGATCATG...
ENST00000539208.5:c.952-15_952-14insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTT (GNE)	ENSP00000445117.1:n.952-15_952-14insAGCCAGGATGGTCTCGATCTCCTGA...
ENST00000539815.5:c.1282-15_1282-14insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTT (GNE)	ENSP00000439155.1:n.1282-15_1282-14insAGCCAGGATGGTCTCGATCTCCT...
ENST00000543356.6:c.1267-15_1267-14insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTT (GNE)	ENSP00000437765.2:n.1267-15_1267-14insAGCCAGGATGGTCTCGATCTCCT...
NM_001128227.2:c.1375-15_1375-14insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTT (GNE)	NP_001121699.1:n.1375-15_1375-14insAGCCAGGATGGTCTCGATCTCCTGAC...
NM_001190383.1:c.1282-15_1282-14insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTT (GNE)	NP_001177312.1:n.1282-15_1282-14insAGCCAGGATGGTCTCGATCTCCTGAC...
NM_001190384.1:c.952-15_952-14insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTT (GNE)	NP_001177313.1:n.952-15_952-14insAGCCAGGATGGTCTCGATCTCCTGACCT...
NM_001190388.1:c.1267-15_1267-14insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTT (GNE)	NP_001177317.1:n.1267-15_1267-14insAGCCAGGATGGTCTCGATCTCCTGAC...
NM_005476.5:c.1282-15_1282-14insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTT (GNE)	NP_005467.1:n.1282-15_1282-14insAGCCAGGATGGTCTCGATCTCCTGACCTC...
XM_005251334.3:c.1222-15_1222-14insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTT (GNE)	XP_005251391.1:n.1222-15_1222-14insAGCCAGGATGGTCTCGATCTCCTGAC...
NM_001190383.2:c.1282-15_1282-14insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTT (GNE)	NP_001177312.1:n.1282-15_1282-14insAGCCAGGATGGTCTCGATCTCCTGAC...
NM_001190384.2:c.952-15_952-14insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTT (GNE)	NP_001177313.1:n.952-15_952-14insAGCCAGGATGGTCTCGATCTCCTGACCT...
NM_005476.6:c.1282-15_1282-14insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTT (GNE)	NP_005467.1:n.1282-15_1282-14insAGCCAGGATGGTCTCGATCTCCTGACCTC...
XM_005251334.4:c.1222-15_1222-14insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTT (GNE)	XP_005251391.1:n.1222-15_1222-14insAGCCAGGATGGTCTCGATCTCCTGAC...
XM_017014167.1:c.1282-15_1282-14insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTT (GNE)	XP_016869656.1:n.1282-15_1282-14insAGCCAGGATGGTCTCGATCTCCTGAC...
XM_017014168.1:c.1129-15_1129-14insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTT (GNE)	XP_016869657.1:n.1129-15_1129-14insAGCCAGGATGGTCTCGATCTCCTGAC...
NM_001128227.3:c.1375-15_1375-14insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTT (GNE) MANE Plus Clinical	NP_001121699.1:n.1375-15_1375-14insAGCCAGGATGGTCTCGATCTCCTGAC...
NM_001190383.3:c.1282-15_1282-14insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTT (GNE)	NP_001177312.1:n.1282-15_1282-14insAGCCAGGATGGTCTCGATCTCCTGAC...
NM_001190384.3:c.952-15_952-14insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTT (GNE)	NP_001177313.1:n.952-15_952-14insAGCCAGGATGGTCTCGATCTCCTGACCT...
NM_001190388.2:c.1105-15_1105-14insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTT (GNE)	NP_001177317.2:n.1105-15_1105-14insAGCCAGGATGGTCTCGATCTCCTGAC...
NM_001374797.1:c.1129-15_1129-14insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTT (GNE)	NP_001361726.1:n.1129-15_1129-14insAGCCAGGATGGTCTCGATCTCCTGAC...
NM_001374798.1:c.1105-15_1105-14insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTT (GNE)	NP_001361727.1:n.1105-15_1105-14insAGCCAGGATGGTCTCGATCTCCTGAC...
NM_005476.7:c.1282-15_1282-14insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGGTT (GNE) MANE Select	NP_005467.1:n.1282-15_1282-14insAGCCAGGATGGTCTCGATCTCCTGACCTC...