Canonical Allele Identifier: CA588147071

Gene: GNE CLTA

Linked Data

• dbSNP Id: rs1563930214
• gnomAD v2: 9-36222877-GAGA-G
• gnomAD v4: 9-36222880-GAGA-G
• MyVariant Identifiers: chr9:g.36222878_36222880del (hg19) ; chr9:g.36222881_36222883del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36222881_36222883del , CM000671.2:g.36222881_36222883del	GRCh38
NC_000009.11:g.36222878_36222880del , CM000671.1:g.36222878_36222880del	GRCh37
NC_000009.10:g.36212878_36212880del	NCBI36
NG_008246.1:g.59162_59164del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.1620_1622del (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Leu541del
ENST00000543356.7:c.1350_1352del (GNE)	ENSP00000437765.3:p.Leu451del
ENST00000642385.2:c.1527_1529del (GNE) MANE Select	ENSP00000494141.2:p.Leu510del
ENST00000377902.5:c.1527_1529del (GNE)	ENSP00000367134.4:p.Leu510del
ENST00000396594.7:c.1620_1622del (GNE)	ENSP00000379839.3:p.Leu541del
ENST00000447283.6:c.1411+490_1411+492del (GNE)	ENSP00000414760.2:n.1411+490_1411+492del
ENST00000464497.5:c.485+18702_485+18704del (CLTA)	ENSP00000419158.1:n.485+18702_485+18704del
ENST00000539208.5:c.1197_1199del (GNE)	ENSP00000445117.1:p.Leu400del
ENST00000539815.5:c.1527_1529del (GNE)	ENSP00000439155.1:p.Leu510del
ENST00000543356.6:c.1512_1514del (GNE)	ENSP00000437765.2:p.Leu505del
NM_001128227.2:c.1620_1622del (GNE)	NP_001121699.1:p.Leu541del
NM_001190383.1:c.1411+490_1411+492del (GNE)	NP_001177312.1:n.1411+490_1411+492del
NM_001190384.1:c.1197_1199del (GNE)	NP_001177313.1:p.Leu400del
NM_001190388.1:c.1512_1514del (GNE)	NP_001177317.1:p.Leu505del
NM_005476.5:c.1527_1529del (GNE)	NP_005467.1:p.Leu510del
XM_005251334.3:c.1467_1469del (GNE)	XP_005251391.1:p.Leu490del
NM_001190383.2:c.1411+490_1411+492del (GNE)	NP_001177312.1:n.1411+490_1411+492del
NM_001190384.2:c.1197_1199del (GNE)	NP_001177313.1:p.Leu400del
NM_005476.6:c.1527_1529del (GNE)	NP_005467.1:p.Leu510del
XM_005251334.4:c.1467_1469del (GNE)	XP_005251391.1:p.Leu490del
XM_017014167.1:c.1527_1529del (GNE)	XP_016869656.1:p.Leu510del
XM_017014168.1:c.1374_1376del (GNE)	XP_016869657.1:p.Leu459del
NM_001128227.3:c.1620_1622del (GNE) MANE Plus Clinical	NP_001121699.1:p.Leu541del
NM_001190383.3:c.1411+490_1411+492del (GNE)	NP_001177312.1:n.1411+490_1411+492del
NM_001190384.3:c.1197_1199del (GNE)	NP_001177313.1:p.Leu400del
NM_001190388.2:c.1350_1352del (GNE)	NP_001177317.2:p.Leu451del
NM_001374797.1:c.1374_1376del (GNE)	NP_001361726.1:p.Leu459del
NM_001374798.1:c.1350_1352del (GNE)	NP_001361727.1:p.Leu451del
NM_005476.7:c.1527_1529del (GNE) MANE Select	NP_005467.1:p.Leu510del