Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36217112_36217188del , CM000671.2:g.36217112_36217188del	GRCh38
NC_000009.11:g.36217109_36217185del , CM000671.1:g.36217109_36217185del	GRCh37
NC_000009.10:g.36207109_36207185del	NCBI36
NG_008246.1:g.64861_64937del

Transcript Alleles

HGVS	Amino-acid Change
NM_005476.7:c.181_257del (GNE) MANE Select	NP_005467.1:n.181_257del
ENST00000642385.2:c.181_257del (GNE) MANE Select	ENSP00000494141.2:n.181_257del
NM_001128227.3:c.181_257del (GNE) MANE Plus Clinical	NP_001121699.1:n.181_257del
ENST00000396594.8:c.181_257del (GNE) MANE Plus Clinical	ENSP00000379839.3:n.181_257del
NM_001128227.2:c.181_257del (GNE)	NP_001121699.1:n.181_257del
NM_001190383.1:c.181_257del (GNE)	NP_001177312.1:n.181_257del
NM_001190383.2:c.181_257del (GNE)	NP_001177312.1:n.181_257del
NM_001190383.3:c.181_257del (GNE)	NP_001177312.1:n.181_257del
NM_001190384.1:c.181_257del (GNE)	NP_001177313.1:n.181_257del
NM_001190384.2:c.181_257del (GNE)	NP_001177313.1:n.181_257del
NM_001190384.3:c.181_257del (GNE)	NP_001177313.1:n.181_257del
NM_001190388.1:c.181_257del (GNE)	NP_001177317.1:n.181_257del
NM_001190388.2:c.181_257del (GNE)	NP_001177317.2:n.181_257del
NM_001374797.1:c.181_257del (GNE)	NP_001361726.1:n.181_257del
NM_001374798.1:c.181_257del (GNE)	NP_001361727.1:n.181_257del
NM_005476.5:c.181_257del (GNE)	NP_005467.1:n.181_257del
NM_005476.6:c.181_257del (GNE)	NP_005467.1:n.181_257del
ENST00000396594.7:c.181_257del (GNE)	ENSP00000379839.3:n.181_257del
ENST00000464497.5:c.485+12933_485+13009del (CLTA)	ENSP00000419158.1:n.485+12933_485+13009del
ENST00000539815.5:c.181_257del (GNE)	ENSP00000439155.1:n.181_257del
ENST00000543356.6:c.2335_2411del (GNE)	ENSP00000437765.2:n.2335_2411del
ENST00000543356.7:c.181_257del (GNE)	ENSP00000437765.3:n.181_257del
XM_005251334.3:c.181_257del (GNE)	XP_005251391.1:n.181_257del
XM_005251334.4:c.181_257del (GNE)	XP_005251391.1:n.181_257del
XM_017014167.1:c.181_257del (GNE)	XP_016869656.1:n.181_257del
XM_017014168.1:c.181_257del (GNE)	XP_016869657.1:n.181_257del

HGVS	Amino-acid Change
NM_005476.7:c.181_257del (GNE) MANE Select	NP_005467.1:n.181_257del
ENST00000642385.2:c.181_257del (GNE) MANE Select	ENSP00000494141.2:n.181_257del
NM_001128227.3:c.181_257del (GNE) MANE Plus Clinical	NP_001121699.1:n.181_257del
ENST00000396594.8:c.181_257del (GNE) MANE Plus Clinical	ENSP00000379839.3:n.181_257del
NM_001128227.2:c.181_257del (GNE)	NP_001121699.1:n.181_257del
NM_001190383.1:c.181_257del (GNE)	NP_001177312.1:n.181_257del
NM_001190383.2:c.181_257del (GNE)	NP_001177312.1:n.181_257del
NM_001190383.3:c.181_257del (GNE)	NP_001177312.1:n.181_257del
NM_001190384.1:c.181_257del (GNE)	NP_001177313.1:n.181_257del
NM_001190384.2:c.181_257del (GNE)	NP_001177313.1:n.181_257del
NM_001190384.3:c.181_257del (GNE)	NP_001177313.1:n.181_257del
NM_001190388.1:c.181_257del (GNE)	NP_001177317.1:n.181_257del
NM_001190388.2:c.181_257del (GNE)	NP_001177317.2:n.181_257del
NM_001374797.1:c.181_257del (GNE)	NP_001361726.1:n.181_257del
NM_001374798.1:c.181_257del (GNE)	NP_001361727.1:n.181_257del
NM_005476.5:c.181_257del (GNE)	NP_005467.1:n.181_257del
NM_005476.6:c.181_257del (GNE)	NP_005467.1:n.181_257del
ENST00000396594.7:c.181_257del (GNE)	ENSP00000379839.3:n.181_257del
ENST00000464497.5:c.485+12933_485+13009del (CLTA)	ENSP00000419158.1:n.485+12933_485+13009del
ENST00000539815.5:c.181_257del (GNE)	ENSP00000439155.1:n.181_257del
ENST00000543356.6:c.2335_2411del (GNE)	ENSP00000437765.2:n.2335_2411del
ENST00000543356.7:c.181_257del (GNE)	ENSP00000437765.3:n.181_257del
XM_005251334.3:c.181_257del (GNE)	XP_005251391.1:n.181_257del
XM_005251334.4:c.181_257del (GNE)	XP_005251391.1:n.181_257del
XM_017014167.1:c.181_257del (GNE)	XP_016869656.1:n.181_257del
XM_017014168.1:c.181_257del (GNE)	XP_016869657.1:n.181_257del