Canonical Allele Identifier: CA1139532203

Gene: GNE CLTA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36222986_36222987delinsAA , CM000671.2:g.36222986_36222987delinsAA	GRCh38
NC_000009.11:g.36222983_36222984delinsAA , CM000671.1:g.36222983_36222984delinsAA	GRCh37
NC_000009.10:g.36212983_36212984delinsAA	NCBI36
NG_008246.1:g.59058_59059delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.1516_1517delinsTT (GNE) MANE Plus Clinical	ENSP00000379839.3:p.Gly506Phe
ENST00000543356.7:c.1246_1247delinsTT (GNE)	ENSP00000437765.3:p.Gly416Phe
ENST00000642385.2:c.1423_1424delinsTT (GNE) MANE Select	ENSP00000494141.2:p.Gly475Phe
ENST00000377902.5:c.1423_1424delinsTT (GNE)	ENSP00000367134.4:p.Gly475Phe
ENST00000396594.7:c.1516_1517delinsTT (GNE)	ENSP00000379839.3:p.Gly506Phe
ENST00000447283.6:c.1411+386_1411+387delinsTT (GNE)	ENSP00000414760.2:n.1411+386_1411+387delinsTT
ENST00000464497.5:c.485+18807_485+18808delinsAA (CLTA)	ENSP00000419158.1:n.485+18807_485+18808delinsAA
ENST00000539208.5:c.1093_1094delinsTT (GNE)	ENSP00000445117.1:p.Gly365Phe
ENST00000539815.5:c.1423_1424delinsTT (GNE)	ENSP00000439155.1:p.Gly475Phe
ENST00000543356.6:c.1408_1409delinsTT (GNE)	ENSP00000437765.2:p.Gly470Phe
NM_001128227.2:c.1516_1517delinsTT (GNE)	NP_001121699.1:p.Gly506Phe
NM_001190383.1:c.1411+386_1411+387delinsTT (GNE)	NP_001177312.1:n.1411+386_1411+387delinsTT
NM_001190384.1:c.1093_1094delinsTT (GNE)	NP_001177313.1:p.Gly365Phe
NM_001190388.1:c.1408_1409delinsTT (GNE)	NP_001177317.1:p.Gly470Phe
NM_005476.5:c.1423_1424delinsTT (GNE)	NP_005467.1:p.Gly475Phe
XM_005251334.3:c.1363_1364delinsTT (GNE)	XP_005251391.1:p.Gly455Phe
NM_001190383.2:c.1411+386_1411+387delinsTT (GNE)	NP_001177312.1:n.1411+386_1411+387delinsTT
NM_001190384.2:c.1093_1094delinsTT (GNE)	NP_001177313.1:p.Gly365Phe
NM_005476.6:c.1423_1424delinsTT (GNE)	NP_005467.1:p.Gly475Phe
XM_005251334.4:c.1363_1364delinsTT (GNE)	XP_005251391.1:p.Gly455Phe
XM_017014167.1:c.1423_1424delinsTT (GNE)	XP_016869656.1:p.Gly475Phe
XM_017014168.1:c.1270_1271delinsTT (GNE)	XP_016869657.1:p.Gly424Phe
NM_001128227.3:c.1516_1517delinsTT (GNE) MANE Plus Clinical	NP_001121699.1:p.Gly506Phe
NM_001190383.3:c.1411+386_1411+387delinsTT (GNE)	NP_001177312.1:n.1411+386_1411+387delinsTT
NM_001190384.3:c.1093_1094delinsTT (GNE)	NP_001177313.1:p.Gly365Phe
NM_001190388.2:c.1246_1247delinsTT (GNE)	NP_001177317.2:p.Gly416Phe
NM_001374797.1:c.1270_1271delinsTT (GNE)	NP_001361726.1:p.Gly424Phe
NM_001374798.1:c.1246_1247delinsTT (GNE)	NP_001361727.1:p.Gly416Phe
NM_005476.7:c.1423_1424delinsTT (GNE) MANE Select	NP_005467.1:p.Gly475Phe