Canonical Allele Identifier: CA2843744531

Gene: GNE CLTA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36223428_36223429del , CM000671.2:g.36223428_36223429del	GRCh38
NC_000009.11:g.36223425_36223426del , CM000671.1:g.36223425_36223426del	GRCh37
NC_000009.10:g.36213425_36213426del	NCBI36
NG_008246.1:g.58622_58623del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.1454_1455del (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Val485GlyfsTer?
ENST00000543356.7:c.1184_1185del (GNE)	ENSP00000437765.3:p.Val395GlyfsTer?
ENST00000642385.2:c.1361_1362del (GNE) MANE Select	ENSP00000494141.2:p.Val454GlyfsTer?
ENST00000377902.5:c.1361_1362del (GNE)	ENSP00000367134.4:p.Val454GlyfsTer?
ENST00000396594.7:c.1454_1455del (GNE)	ENSP00000379839.3:p.Val485GlyfsTer?
ENST00000447283.6:c.1361_1362del (GNE)	ENSP00000414760.2:p.Val454GlyfsTer27
ENST00000464497.5:c.485+19249_485+19250del (CLTA)	ENSP00000419158.1:n.485+19249_485+19250del
ENST00000539208.5:c.1031_1032del (GNE)	ENSP00000445117.1:p.Val344GlyfsTer?
ENST00000539815.5:c.1361_1362del (GNE)	ENSP00000439155.1:p.Val454GlyfsTer?
ENST00000543356.6:c.1346_1347del (GNE)	ENSP00000437765.2:p.Val449GlyfsTer?
NM_001128227.2:c.1454_1455del (GNE)	NP_001121699.1:p.Val485GlyfsTer?
NM_001190383.1:c.1361_1362del (GNE)	NP_001177312.1:p.Val454GlyfsTer27
NM_001190384.1:c.1031_1032del (GNE)	NP_001177313.1:p.Val344GlyfsTer?
NM_001190388.1:c.1346_1347del (GNE)	NP_001177317.1:p.Val449GlyfsTer?
NM_005476.5:c.1361_1362del (GNE)	NP_005467.1:p.Val454GlyfsTer?
XM_005251334.3:c.1301_1302del (GNE)	XP_005251391.1:p.Val434GlyfsTer?
NM_001190383.2:c.1361_1362del (GNE)	NP_001177312.1:p.Val454GlyfsTer27
NM_001190384.2:c.1031_1032del (GNE)	NP_001177313.1:p.Val344GlyfsTer?
NM_005476.6:c.1361_1362del (GNE)	NP_005467.1:p.Val454GlyfsTer?
XM_005251334.4:c.1301_1302del (GNE)	XP_005251391.1:p.Val434GlyfsTer?
XM_017014167.1:c.1361_1362del (GNE)	XP_016869656.1:p.Val454GlyfsTer?
XM_017014168.1:c.1208_1209del (GNE)	XP_016869657.1:p.Val403GlyfsTer?
NM_001128227.3:c.1454_1455del (GNE) MANE Plus Clinical	NP_001121699.1:p.Val485GlyfsTer?
NM_001190383.3:c.1361_1362del (GNE)	NP_001177312.1:p.Val454GlyfsTer27
NM_001190384.3:c.1031_1032del (GNE)	NP_001177313.1:p.Val344GlyfsTer?
NM_001190388.2:c.1184_1185del (GNE)	NP_001177317.2:p.Val395GlyfsTer?
NM_001374797.1:c.1208_1209del (GNE)	NP_001361726.1:p.Val403GlyfsTer?
NM_001374798.1:c.1184_1185del (GNE)	NP_001361727.1:p.Val395GlyfsTer?
NM_005476.7:c.1361_1362del (GNE) MANE Select	NP_005467.1:p.Val454GlyfsTer?