Canonical Allele Identifier: CA863603254

Gene: GNE CLTA

Linked Data

• dbSNP Id: rs1217923796
• MyVariant Identifiers: chr9:g.36218215_36218222del (hg19) ; chr9:g.36218218_36218225del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36218220_36218227del , CM000671.2:g.36218220_36218227del	GRCh38
NC_000009.11:g.36218217_36218224del , CM000671.1:g.36218217_36218224del	GRCh37
NC_000009.10:g.36208217_36208224del	NCBI36
NG_008246.1:g.63820_63827del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.1984_1991del (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Ala662TrpfsTer?
ENST00000543356.7:c.1714_1721del (GNE)	ENSP00000437765.3:p.Ala572TrpfsTer?
ENST00000642385.2:c.1891_1898del (GNE) MANE Select	ENSP00000494141.2:p.Ala631TrpfsTer?
ENST00000377902.5:c.1891_1898del (GNE)	ENSP00000367134.4:p.Ala631TrpfsTer?
ENST00000396594.7:c.1984_1991del (GNE)	ENSP00000379839.3:p.Ala662TrpfsTer?
ENST00000447283.6:c.1669_1676del (GNE)	ENSP00000414760.2:p.Ala557TrpfsTer?
ENST00000464497.5:c.485+14041_485+14048del (CLTA)	ENSP00000419158.1:n.485+14041_485+14048del
ENST00000539208.5:c.1561_1568del (GNE)	ENSP00000445117.1:p.Ala521TrpfsTer?
ENST00000539815.5:c.1891_1898del (GNE)	ENSP00000439155.1:p.Ala631TrpfsTer?
ENST00000543356.6:c.1876_1883del (GNE)	ENSP00000437765.2:p.Ala626TrpfsTer?
NM_001128227.2:c.1984_1991del (GNE)	NP_001121699.1:p.Ala662TrpfsTer?
NM_001190383.1:c.1669_1676del (GNE)	NP_001177312.1:p.Ala557TrpfsTer?
NM_001190384.1:c.1561_1568del (GNE)	NP_001177313.1:p.Ala521TrpfsTer?
NM_001190388.1:c.1876_1883del (GNE)	NP_001177317.1:p.Ala626TrpfsTer?
NM_005476.5:c.1891_1898del (GNE)	NP_005467.1:p.Ala631TrpfsTer?
XM_005251334.3:c.1831_1838del (GNE)	XP_005251391.1:p.Ala611TrpfsTer?
NM_001190383.2:c.1669_1676del (GNE)	NP_001177312.1:p.Ala557TrpfsTer?
NM_001190384.2:c.1561_1568del (GNE)	NP_001177313.1:p.Ala521TrpfsTer?
NM_005476.6:c.1891_1898del (GNE)	NP_005467.1:p.Ala631TrpfsTer?
XM_005251334.4:c.1831_1838del (GNE)	XP_005251391.1:p.Ala611TrpfsTer?
XM_017014167.1:c.1891_1898del (GNE)	XP_016869656.1:p.Ala631TrpfsTer?
XM_017014168.1:c.1738_1745del (GNE)	XP_016869657.1:p.Ala580TrpfsTer?
NM_001128227.3:c.1984_1991del (GNE) MANE Plus Clinical	NP_001121699.1:p.Ala662TrpfsTer?
NM_001190383.3:c.1669_1676del (GNE)	NP_001177312.1:p.Ala557TrpfsTer?
NM_001190384.3:c.1561_1568del (GNE)	NP_001177313.1:p.Ala521TrpfsTer?
NM_001190388.2:c.1714_1721del (GNE)	NP_001177317.2:p.Ala572TrpfsTer?
NM_001374797.1:c.1738_1745del (GNE)	NP_001361726.1:p.Ala580TrpfsTer?
NM_001374798.1:c.1714_1721del (GNE)	NP_001361727.1:p.Ala572TrpfsTer?
NM_005476.7:c.1891_1898del (GNE) MANE Select	NP_005467.1:p.Ala631TrpfsTer?