Canonical Allele Identifier: CA1846333430

Gene: GNE CLTA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36222865_36222867delinsGTC , CM000671.2:g.36222865_36222867delinsGTC	GRCh38
NC_000009.11:g.36222862_36222864delinsGTC , CM000671.1:g.36222862_36222864delinsGTC	GRCh37
NC_000009.10:g.36212862_36212864delinsGTC	NCBI36
NG_008246.1:g.59178_59180delinsGAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000396594.8:c.1636_1638delinsGAC (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Asp546=
ENST00000543356.7:c.1366_1368delinsGAC (GNE)	ENSP00000437765.3:p.Asp456=
ENST00000642385.2:c.1543_1545delinsGAC (GNE) MANE Select	ENSP00000494141.2:p.Asp515=
ENST00000377902.5:c.1543_1545delinsGAC (GNE)	ENSP00000367134.4:p.Asp515=
ENST00000396594.7:c.1636_1638delinsGAC (GNE)	ENSP00000379839.3:p.Asp546=
ENST00000447283.6:c.1411+506_1411+508delinsGAC (GNE)	ENSP00000414760.2:n.1411+506_1411+508deli...
ENST00000464497.5:c.485+18686_485+18688delinsGTC (CLTA)	ENSP00000419158.1:n.485+18686_485+18688de...
ENST00000539208.5:c.1213_1215delinsGAC (GNE)	ENSP00000445117.1:p.Asp405=
ENST00000539815.5:c.1543_1545delinsGAC (GNE)	ENSP00000439155.1:p.Asp515=
ENST00000543356.6:c.1528_1530delinsGAC (GNE)	ENSP00000437765.2:p.Asp510=
NM_001128227.2:c.1636_1638delinsGAC (GNE)	NP_001121699.1:p.Asp546=
NM_001190383.1:c.1411+506_1411+508delinsGAC (GNE)	NP_001177312.1:n.1411+506_1411+508delinsG...
NM_001190384.1:c.1213_1215delinsGAC (GNE)	NP_001177313.1:p.Asp405=
NM_001190388.1:c.1528_1530delinsGAC (GNE)	NP_001177317.1:p.Asp510=
NM_005476.5:c.1543_1545delinsGAC (GNE)	NP_005467.1:p.Asp515=
XM_005251334.3:c.1483_1485delinsGAC (GNE)	XP_005251391.1:p.Asp495=
NM_001190383.2:c.1411+506_1411+508delinsGAC (GNE)	NP_001177312.1:n.1411+506_1411+508delinsG...
NM_001190384.2:c.1213_1215delinsGAC (GNE)	NP_001177313.1:p.Asp405=
NM_005476.6:c.1543_1545delinsGAC (GNE)	NP_005467.1:p.Asp515=
XM_005251334.4:c.1483_1485delinsGAC (GNE)	XP_005251391.1:p.Asp495=
XM_017014167.1:c.1543_1545delinsGAC (GNE)	XP_016869656.1:p.Asp515=
XM_017014168.1:c.1390_1392delinsGAC (GNE)	XP_016869657.1:p.Asp464=
NM_001128227.3:c.1636_1638delinsGAC (GNE) MANE Plus Clinical	NP_001121699.1:p.Asp546=
NM_001190383.3:c.1411+506_1411+508delinsGAC (GNE)	NP_001177312.1:n.1411+506_1411+508delinsG...
NM_001190384.3:c.1213_1215delinsGAC (GNE)	NP_001177313.1:p.Asp405=
NM_001190388.2:c.1366_1368delinsGAC (GNE)	NP_001177317.2:p.Asp456=
NM_001374797.1:c.1390_1392delinsGAC (GNE)	NP_001361726.1:p.Asp464=
NM_001374798.1:c.1366_1368delinsGAC (GNE)	NP_001361727.1:p.Asp456=
NM_005476.7:c.1543_1545delinsGAC (GNE) MANE Select	NP_005467.1:p.Asp515=