Canonical Allele Identifier: CA5056509

Gene: GNE CLTA

Linked Data

• ClinVar Variation Id: 1981782
• ClinVar RCV Id: RCV002766429
• dbSNP Id: rs766737869
• ExAC: 9:36223510 AAAC / A
• gnomAD v2: 9-36223510-AAAC-A
• gnomAD v3: 9-36223513-AAAC-A
• gnomAD v4: 9-36223513-AAAC-A
• MyVariant Identifiers: chr9:g.36223511_36223513del (hg19) ; chr9:g.36223514_36223516del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36223519_36223521del , CM000671.2:g.36223519_36223521del	GRCh38
NC_000009.11:g.36223516_36223518del , CM000671.1:g.36223516_36223518del	GRCh37
NC_000009.10:g.36213516_36213518del	NCBI36
NG_008246.1:g.58529_58531del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.1375-14_1375-12del (GNE) MANE Plus Clinical	ENSP00000379839.3:n.1375-14_1375-12del
ENST00000543356.7:c.1105-14_1105-12del (GNE)	ENSP00000437765.3:n.1105-14_1105-12del
ENST00000642385.2:c.1282-14_1282-12del (GNE) MANE Select	ENSP00000494141.2:n.1282-14_1282-12del
ENST00000377902.5:c.1282-14_1282-12del (GNE)	ENSP00000367134.4:n.1282-14_1282-12del
ENST00000396594.7:c.1375-14_1375-12del (GNE)	ENSP00000379839.3:n.1375-14_1375-12del
ENST00000447283.6:c.1282-14_1282-12del (GNE)	ENSP00000414760.2:n.1282-14_1282-12del
ENST00000464497.5:c.485+19340_485+19342del (CLTA)	ENSP00000419158.1:n.485+19340_485+19342del
ENST00000539208.5:c.952-14_952-12del (GNE)	ENSP00000445117.1:n.952-14_952-12del
ENST00000539815.5:c.1282-14_1282-12del (GNE)	ENSP00000439155.1:n.1282-14_1282-12del
ENST00000543356.6:c.1267-14_1267-12del (GNE)	ENSP00000437765.2:n.1267-14_1267-12del
NM_001128227.2:c.1375-14_1375-12del (GNE)	NP_001121699.1:n.1375-14_1375-12del
NM_001190383.1:c.1282-14_1282-12del (GNE)	NP_001177312.1:n.1282-14_1282-12del
NM_001190384.1:c.952-14_952-12del (GNE)	NP_001177313.1:n.952-14_952-12del
NM_001190388.1:c.1267-14_1267-12del (GNE)	NP_001177317.1:n.1267-14_1267-12del
NM_005476.5:c.1282-14_1282-12del (GNE)	NP_005467.1:n.1282-14_1282-12del
XM_005251334.3:c.1222-14_1222-12del (GNE)	XP_005251391.1:n.1222-14_1222-12del
NM_001190383.2:c.1282-14_1282-12del (GNE)	NP_001177312.1:n.1282-14_1282-12del
NM_001190384.2:c.952-14_952-12del (GNE)	NP_001177313.1:n.952-14_952-12del
NM_005476.6:c.1282-14_1282-12del (GNE)	NP_005467.1:n.1282-14_1282-12del
XM_005251334.4:c.1222-14_1222-12del (GNE)	XP_005251391.1:n.1222-14_1222-12del
XM_017014167.1:c.1282-14_1282-12del (GNE)	XP_016869656.1:n.1282-14_1282-12del
XM_017014168.1:c.1129-14_1129-12del (GNE)	XP_016869657.1:n.1129-14_1129-12del
NM_001128227.3:c.1375-14_1375-12del (GNE) MANE Plus Clinical	NP_001121699.1:n.1375-14_1375-12del
NM_001190383.3:c.1282-14_1282-12del (GNE)	NP_001177312.1:n.1282-14_1282-12del
NM_001190384.3:c.952-14_952-12del (GNE)	NP_001177313.1:n.952-14_952-12del
NM_001190388.2:c.1105-14_1105-12del (GNE)	NP_001177317.2:n.1105-14_1105-12del
NM_001374797.1:c.1129-14_1129-12del (GNE)	NP_001361726.1:n.1129-14_1129-12del
NM_001374798.1:c.1105-14_1105-12del (GNE)	NP_001361727.1:n.1105-14_1105-12del
NM_005476.7:c.1282-14_1282-12del (GNE) MANE Select	NP_005467.1:n.1282-14_1282-12del