Canonical Allele Identifier: CA1846328470

Gene: GNE CLTA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36219867_36219879delinsAAGGCCATTCCAG , CM000671.2:g.36219867_36219879delinsAAGGCCATTCCAG	GRCh38
NC_000009.11:g.36219864_36219876delinsAAGGCCATTCCAG , CM000671.1:g.36219864_36219876delinsAAGGCCATTCCAG	GRCh37
NC_000009.10:g.36209864_36209876delinsAAGGCCATTCCAG	NCBI36
NG_008246.1:g.62166_62178delinsCTGGAATGGCCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000396594.8:c.1868_1880delinsCTGGAATGGCCTT (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Ser623=
ENST00000543356.7:c.1598_1610delinsCTGGAATGGCCTT (GNE)	ENSP00000437765.3:p.Ser533=
ENST00000642385.2:c.1775_1787delinsCTGGAATGGCCTT (GNE) MANE Select	ENSP00000494141.2:p.Ser592=
ENST00000377902.5:c.1775_1787delinsCTGGAATGGCCTT (GNE)	ENSP00000367134.4:p.Ser592=
ENST00000396594.7:c.1868_1880delinsCTGGAATGGCCTT (GNE)	ENSP00000379839.3:p.Ser623=
ENST00000447283.6:c.1553_1565delinsCTGGAATGGCCTT (GNE)	ENSP00000414760.2:p.Ser518=
ENST00000464497.5:c.485+15688_485+15700delinsAAGGCCATTCCAG (CLTA)	ENSP00000419158.1:n.485+15688_485+15700de...
ENST00000539208.5:c.1445_1457delinsCTGGAATGGCCTT (GNE)	ENSP00000445117.1:p.Ser482=
ENST00000539815.5:c.1775_1787delinsCTGGAATGGCCTT (GNE)	ENSP00000439155.1:p.Ser592=
ENST00000543356.6:c.1760_1772delinsCTGGAATGGCCTT (GNE)	ENSP00000437765.2:p.Ser587=
NM_001128227.2:c.1868_1880delinsCTGGAATGGCCTT (GNE)	NP_001121699.1:p.Ser623=
NM_001190383.1:c.1553_1565delinsCTGGAATGGCCTT (GNE)	NP_001177312.1:p.Ser518=
NM_001190384.1:c.1445_1457delinsCTGGAATGGCCTT (GNE)	NP_001177313.1:p.Ser482=
NM_001190388.1:c.1760_1772delinsCTGGAATGGCCTT (GNE)	NP_001177317.1:p.Ser587=
NM_005476.5:c.1775_1787delinsCTGGAATGGCCTT (GNE)	NP_005467.1:p.Ser592=
XM_005251334.3:c.1715_1727delinsCTGGAATGGCCTT (GNE)	XP_005251391.1:p.Ser572=
NM_001190383.2:c.1553_1565delinsCTGGAATGGCCTT (GNE)	NP_001177312.1:p.Ser518=
NM_001190384.2:c.1445_1457delinsCTGGAATGGCCTT (GNE)	NP_001177313.1:p.Ser482=
NM_005476.6:c.1775_1787delinsCTGGAATGGCCTT (GNE)	NP_005467.1:p.Ser592=
XM_005251334.4:c.1715_1727delinsCTGGAATGGCCTT (GNE)	XP_005251391.1:p.Ser572=
XM_017014167.1:c.1775_1787delinsCTGGAATGGCCTT (GNE)	XP_016869656.1:p.Ser592=
XM_017014168.1:c.1622_1634delinsCTGGAATGGCCTT (GNE)	XP_016869657.1:p.Ser541=
NM_001128227.3:c.1868_1880delinsCTGGAATGGCCTT (GNE) MANE Plus Clinical	NP_001121699.1:p.Ser623=
NM_001190383.3:c.1553_1565delinsCTGGAATGGCCTT (GNE)	NP_001177312.1:p.Ser518=
NM_001190384.3:c.1445_1457delinsCTGGAATGGCCTT (GNE)	NP_001177313.1:p.Ser482=
NM_001190388.2:c.1598_1610delinsCTGGAATGGCCTT (GNE)	NP_001177317.2:p.Ser533=
NM_001374797.1:c.1622_1634delinsCTGGAATGGCCTT (GNE)	NP_001361726.1:p.Ser541=
NM_001374798.1:c.1598_1610delinsCTGGAATGGCCTT (GNE)	NP_001361727.1:p.Ser533=
NM_005476.7:c.1775_1787delinsCTGGAATGGCCTT (GNE) MANE Select	NP_005467.1:p.Ser592=