Canonical Allele Identifier: CA2839811028

Gene: GLUD1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87053323dup , CM000672.2:g.87053323dup	GRCh38
NC_000010.10:g.88813080dup , CM000672.1:g.88813080dup	GRCh37
NC_000010.9:g.88803060dup	NCBI36
NG_013010.1:g.46699dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474574.2:n.3132+21dup
ENST00000487058.2:n.1304+21dup
ENST00000681987.1:n.1395+21dup
ENST00000681988.1:c.1056+21dup	ENSP00000507316.1:n.1056+21dup
ENST00000682396.1:c.1548+21dup	ENSP00000506764.1:n.1548+21dup
ENST00000682507.1:c.1056+21dup	ENSP00000508098.1:n.1056+21dup
ENST00000682622.1:c.1837+21dup	ENSP00000506732.1:n.1837+21dup
ENST00000682833.1:c.1392+21dup
ENST00000683022.1:c.1578+21dup
ENST00000683256.1:c.1056+21dup	ENSP00000507901.1:n.1056+21dup
ENST00000683269.1:c.1056+21dup	ENSP00000508107.1:n.1056+21dup
ENST00000683647.1:n.4891+21dup
ENST00000683649.1:n.407+21dup
ENST00000683783.1:c.1056+21dup	ENSP00000507881.1:n.1056+21dup
ENST00000683813.1:n.1285+21dup
ENST00000684032.1:c.1412+21dup	ENSP00000506969.1:n.1412+21dup
ENST00000684201.1:c.1281+21dup	ENSP00000507887.1:n.1281+21dup
ENST00000684338.1:c.1578dup	ENSP00000507457.1:p.Ala527CysfsTer29
ENST00000684372.1:c.1056+21dup	ENSP00000508244.1:n.1056+21dup
ENST00000684434.1:c.1028+21dup
ENST00000684546.1:c.1056+21dup	ENSP00000507729.1:n.1056+21dup
ENST00000684665.1:n.521+21dup
ENST00000684690.1:n.1784+21dup
ENST00000684699.1:n.4136+21dup
ENST00000277865.5:c.1557+21dup MANE Select	ENSP00000277865.4:n.1557+21dup
ENST00000277865.4:c.1557+21dup	ENSP00000277865.4:n.1557+21dup
NM_005271.3:c.1557+21dup	NP_005262.1:n.1557+21dup
XM_011539668.1:c.1056+21dup	XP_011537970.1:n.1056+21dup
XM_011539669.1:c.1056+21dup	XP_011537971.1:n.1056+21dup
NM_001318900.1:c.1158+21dup	NP_001305829.1:n.1158+21dup
NM_001318901.1:c.1056+21dup	NP_001305830.1:n.1056+21dup
NM_001318902.1:c.1056+21dup	NP_001305831.1:n.1056+21dup
NM_001318904.1:c.1056+21dup	NP_001305833.1:n.1056+21dup
NM_001318905.1:c.1056+21dup	NP_001305834.1:n.1056+21dup
NM_001318906.1:c.1056+21dup	NP_001305835.1:n.1056+21dup
NM_005271.4:c.1557+21dup	NP_005262.1:n.1557+21dup
NM_005271.5:c.1557+21dup MANE Select	NP_005262.1:n.1557+21dup
NM_001318904.2:c.1056+21dup	NP_001305833.1:n.1056+21dup
NM_001318905.2:c.1056+21dup	NP_001305834.1:n.1056+21dup
NM_001318906.2:c.1056+21dup	NP_001305835.1:n.1056+21dup