Canonical Allele Identifier: CA918447924

Gene: GNE CLTA

Linked Data

• dbSNP Id: rs1554658930

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36222881_36222882insT , CM000671.2:g.36222881_36222882insT	GRCh38
NC_000009.11:g.36222878_36222879insT , CM000671.1:g.36222878_36222879insT	GRCh37
NC_000009.10:g.36212878_36212879insT	NCBI36
NG_008246.1:g.59163_59164insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000396594.8:c.1621_1622insA (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Leu541HisfsTer8
ENST00000543356.7:c.1351_1352insA (GNE)	ENSP00000437765.3:p.Leu451HisfsTer8
ENST00000642385.2:c.1528_1529insA (GNE) MANE Select	ENSP00000494141.2:p.Leu510HisfsTer8
ENST00000377902.5:c.1528_1529insA (GNE)	ENSP00000367134.4:p.Leu510HisfsTer8
ENST00000396594.7:c.1621_1622insA (GNE)	ENSP00000379839.3:p.Leu541HisfsTer8
ENST00000447283.6:c.1411+491_1411+492insA (GNE)	ENSP00000414760.2:n.1411+491_1411+492insA
ENST00000464497.5:c.485+18702_485+18703insT (CLTA)	ENSP00000419158.1:n.485+18702_485+18703insT
ENST00000539208.5:c.1198_1199insA (GNE)	ENSP00000445117.1:p.Leu400HisfsTer8
ENST00000539815.5:c.1528_1529insA (GNE)	ENSP00000439155.1:p.Leu510HisfsTer8
ENST00000543356.6:c.1513_1514insA (GNE)	ENSP00000437765.2:p.Leu505HisfsTer8
NM_001128227.2:c.1621_1622insA (GNE)	NP_001121699.1:p.Leu541HisfsTer8
NM_001190383.1:c.1411+491_1411+492insA (GNE)	NP_001177312.1:n.1411+491_1411+492insA
NM_001190384.1:c.1198_1199insA (GNE)	NP_001177313.1:p.Leu400HisfsTer8
NM_001190388.1:c.1513_1514insA (GNE)	NP_001177317.1:p.Leu505HisfsTer8
NM_005476.5:c.1528_1529insA (GNE)	NP_005467.1:p.Leu510HisfsTer8
XM_005251334.3:c.1468_1469insA (GNE)	XP_005251391.1:p.Leu490HisfsTer8
NM_001190383.2:c.1411+491_1411+492insA (GNE)	NP_001177312.1:n.1411+491_1411+492insA
NM_001190384.2:c.1198_1199insA (GNE)	NP_001177313.1:p.Leu400HisfsTer8
NM_005476.6:c.1528_1529insA (GNE)	NP_005467.1:p.Leu510HisfsTer8
XM_005251334.4:c.1468_1469insA (GNE)	XP_005251391.1:p.Leu490HisfsTer8
XM_017014167.1:c.1528_1529insA (GNE)	XP_016869656.1:p.Leu510HisfsTer8
XM_017014168.1:c.1375_1376insA (GNE)	XP_016869657.1:p.Leu459HisfsTer8
NM_001128227.3:c.1621_1622insA (GNE) MANE Plus Clinical	NP_001121699.1:p.Leu541HisfsTer8
NM_001190383.3:c.1411+491_1411+492insA (GNE)	NP_001177312.1:n.1411+491_1411+492insA
NM_001190384.3:c.1198_1199insA (GNE)	NP_001177313.1:p.Leu400HisfsTer8
NM_001190388.2:c.1351_1352insA (GNE)	NP_001177317.2:p.Leu451HisfsTer8
NM_001374797.1:c.1375_1376insA (GNE)	NP_001361726.1:p.Leu459HisfsTer8
NM_001374798.1:c.1351_1352insA (GNE)	NP_001361727.1:p.Leu451HisfsTer8
NM_005476.7:c.1528_1529insA (GNE) MANE Select	NP_005467.1:p.Leu510HisfsTer8