Canonical Allele Identifier: CA1846333457

Gene: GNE CLTA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36222877_36222878delinsAG , CM000671.2:g.36222877_36222878delinsAG	GRCh38
NC_000009.11:g.36222874_36222875delinsAG , CM000671.1:g.36222874_36222875delinsAG	GRCh37
NC_000009.10:g.36212874_36212875delinsAG	NCBI36
NG_008246.1:g.59167_59168delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000396594.8:c.1625_1626delinsCT (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Pro542=
ENST00000543356.7:c.1355_1356delinsCT (GNE)	ENSP00000437765.3:p.Pro452=
ENST00000642385.2:c.1532_1533delinsCT (GNE) MANE Select	ENSP00000494141.2:p.Pro511=
ENST00000377902.5:c.1532_1533delinsCT (GNE)	ENSP00000367134.4:p.Pro511=
ENST00000396594.7:c.1625_1626delinsCT (GNE)	ENSP00000379839.3:p.Pro542=
ENST00000447283.6:c.1411+495_1411+496delinsCT (GNE)	ENSP00000414760.2:n.1411+495_1411+496deli...
ENST00000464497.5:c.485+18698_485+18699delinsAG (CLTA)	ENSP00000419158.1:n.485+18698_485+18699de...
ENST00000539208.5:c.1202_1203delinsCT (GNE)	ENSP00000445117.1:p.Pro401=
ENST00000539815.5:c.1532_1533delinsCT (GNE)	ENSP00000439155.1:p.Pro511=
ENST00000543356.6:c.1517_1518delinsCT (GNE)	ENSP00000437765.2:p.Pro506=
NM_001128227.2:c.1625_1626delinsCT (GNE)	NP_001121699.1:p.Pro542=
NM_001190383.1:c.1411+495_1411+496delinsCT (GNE)	NP_001177312.1:n.1411+495_1411+496delinsC...
NM_001190384.1:c.1202_1203delinsCT (GNE)	NP_001177313.1:p.Pro401=
NM_001190388.1:c.1517_1518delinsCT (GNE)	NP_001177317.1:p.Pro506=
NM_005476.5:c.1532_1533delinsCT (GNE)	NP_005467.1:p.Pro511=
XM_005251334.3:c.1472_1473delinsCT (GNE)	XP_005251391.1:p.Pro491=
NM_001190383.2:c.1411+495_1411+496delinsCT (GNE)	NP_001177312.1:n.1411+495_1411+496delinsC...
NM_001190384.2:c.1202_1203delinsCT (GNE)	NP_001177313.1:p.Pro401=
NM_005476.6:c.1532_1533delinsCT (GNE)	NP_005467.1:p.Pro511=
XM_005251334.4:c.1472_1473delinsCT (GNE)	XP_005251391.1:p.Pro491=
XM_017014167.1:c.1532_1533delinsCT (GNE)	XP_016869656.1:p.Pro511=
XM_017014168.1:c.1379_1380delinsCT (GNE)	XP_016869657.1:p.Pro460=
NM_001128227.3:c.1625_1626delinsCT (GNE) MANE Plus Clinical	NP_001121699.1:p.Pro542=
NM_001190383.3:c.1411+495_1411+496delinsCT (GNE)	NP_001177312.1:n.1411+495_1411+496delinsC...
NM_001190384.3:c.1202_1203delinsCT (GNE)	NP_001177313.1:p.Pro401=
NM_001190388.2:c.1355_1356delinsCT (GNE)	NP_001177317.2:p.Pro452=
NM_001374797.1:c.1379_1380delinsCT (GNE)	NP_001361726.1:p.Pro460=
NM_001374798.1:c.1355_1356delinsCT (GNE)	NP_001361727.1:p.Pro452=
NM_005476.7:c.1532_1533delinsCT (GNE) MANE Select	NP_005467.1:p.Pro511=