Canonical Allele Identifier: CA2610018747

Gene: GLUD1

Linked Data

• gnomAD v4: 10-87060876-TTTATA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87060879_87060883del , CM000672.2:g.87060879_87060883del	GRCh38
NC_000010.10:g.88820636_88820640del , CM000672.1:g.88820636_88820640del	GRCh37
NC_000010.9:g.88810616_88810620del	NCBI36
NG_013010.1:g.39139_39143del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474574.2:n.2634+34_2634+38del
ENST00000487058.2:n.305_309del
ENST00000681987.1:n.897+34_897+38del
ENST00000681988.1:c.558+34_558+38del	ENSP00000507316.1:n.558+34_558+38del
ENST00000682396.1:c.1050+34_1050+38del	ENSP00000506764.1:n.1050+34_1050+38del
ENST00000682507.1:c.558+34_558+38del	ENSP00000508098.1:n.558+34_558+38del
ENST00000682622.1:c.1339+34_1339+38del	ENSP00000506732.1:n.1339+34_1339+38del
ENST00000682833.1:c.894+34_894+38del
ENST00000683022.1:c.1080+34_1080+38del
ENST00000683256.1:c.558+34_558+38del	ENSP00000507901.1:n.558+34_558+38del
ENST00000683269.1:c.558+34_558+38del	ENSP00000508107.1:n.558+34_558+38del
ENST00000683647.1:n.4393+34_4393+38del
ENST00000683783.1:c.558+34_558+38del	ENSP00000507881.1:n.558+34_558+38del
ENST00000683813.1:n.787+34_787+38del
ENST00000684032.1:c.914+34_914+38del	ENSP00000506969.1:n.914+34_914+38del
ENST00000684201.1:c.922-640_922-636del	ENSP00000507887.1:n.922-640_922-636del
ENST00000684338.1:c.1059+34_1059+38del	ENSP00000507457.1:n.1059+34_1059+38del
ENST00000684372.1:c.558+34_558+38del	ENSP00000508244.1:n.558+34_558+38del
ENST00000684392.1:n.1790+34_1790+38del
ENST00000684434.1:c.530+34_530+38del
ENST00000684546.1:c.558+34_558+38del	ENSP00000507729.1:n.558+34_558+38del
ENST00000684690.1:n.840+34_840+38del
ENST00000684699.1:n.3192+34_3192+38del
ENST00000277865.5:c.1059+34_1059+38del MANE Select	ENSP00000277865.4:n.1059+34_1059+38del
ENST00000277865.4:c.1059+34_1059+38del	ENSP00000277865.4:n.1059+34_1059+38del
ENST00000465164.1:n.138+34_138+38del
NM_005271.3:c.1059+34_1059+38del	NP_005262.1:n.1059+34_1059+38del
XM_011539668.1:c.558+34_558+38del	XP_011537970.1:n.558+34_558+38del
XM_011539669.1:c.558+34_558+38del	XP_011537971.1:n.558+34_558+38del
NM_001318900.1:c.660+34_660+38del	NP_001305829.1:n.660+34_660+38del
NM_001318901.1:c.558+34_558+38del	NP_001305830.1:n.558+34_558+38del
NM_001318902.1:c.558+34_558+38del	NP_001305831.1:n.558+34_558+38del
NM_001318904.1:c.558+34_558+38del	NP_001305833.1:n.558+34_558+38del
NM_001318905.1:c.558+34_558+38del	NP_001305834.1:n.558+34_558+38del
NM_001318906.1:c.558+34_558+38del	NP_001305835.1:n.558+34_558+38del
NM_005271.4:c.1059+34_1059+38del	NP_005262.1:n.1059+34_1059+38del
NM_005271.5:c.1059+34_1059+38del MANE Select	NP_005262.1:n.1059+34_1059+38del
NM_001318904.2:c.558+34_558+38del	NP_001305833.1:n.558+34_558+38del
NM_001318905.2:c.558+34_558+38del	NP_001305834.1:n.558+34_558+38del
NM_001318906.2:c.558+34_558+38del	NP_001305835.1:n.558+34_558+38del