Canonical Allele Identifier: CA1925791429

Gene: GLUD1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87060742_87060743delinsTG , CM000672.2:g.87060742_87060743delinsTG	GRCh38
NC_000010.10:g.88820499_88820500delinsTG , CM000672.1:g.88820499_88820500delinsTG	GRCh37
NC_000010.9:g.88810479_88810480delinsTG	NCBI36
NG_013010.1:g.39277_39278delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474574.2:n.2717_2718delinsCA
ENST00000487058.2:n.443_444delinsCA
ENST00000681987.1:n.980_981delinsCA
ENST00000681988.1:c.641_642delinsCA	ENSP00000507316.1:p.Pro214=
ENST00000682396.1:c.1133_1134delinsCA	ENSP00000506764.1:n.1133_1134delinsCA
ENST00000682507.1:c.641_642delinsCA	ENSP00000508098.1:p.Pro214=
ENST00000682622.1:c.1422_1423delinsCA	ENSP00000506732.1:n.1422_1423delinsCA
ENST00000682833.1:c.977_978delinsCA
ENST00000683022.1:c.1163_1164delinsCA
ENST00000683256.1:c.641_642delinsCA	ENSP00000507901.1:p.Pro214=
ENST00000683269.1:c.641_642delinsCA	ENSP00000508107.1:p.Pro214=
ENST00000683647.1:n.4476_4477delinsCA
ENST00000683783.1:c.641_642delinsCA	ENSP00000507881.1:p.Pro214=
ENST00000683813.1:n.870_871delinsCA
ENST00000684032.1:c.997_998delinsCA	ENSP00000506969.1:n.997_998delinsCA
ENST00000684201.1:c.922-502_922-501delinsCA	ENSP00000507887.1:n.922-502_922-501delinsCA
ENST00000684338.1:c.1142_1143delinsCA	ENSP00000507457.1:p.Pro381=
ENST00000684372.1:c.641_642delinsCA	ENSP00000508244.1:p.Pro214=
ENST00000684392.1:n.1873_1874delinsCA
ENST00000684434.1:c.613_614delinsCA
ENST00000684546.1:c.641_642delinsCA	ENSP00000507729.1:p.Pro214=
ENST00000684690.1:n.923_924delinsCA
ENST00000684699.1:n.3275_3276delinsCA
ENST00000277865.5:c.1142_1143delinsCA MANE Select	ENSP00000277865.4:p.Pro381=
ENST00000277865.4:c.1142_1143delinsCA	ENSP00000277865.4:p.Pro381=
ENST00000465164.1:n.221_222delinsCA
NM_005271.3:c.1142_1143delinsCA	NP_005262.1:p.Pro381=
XM_011539668.1:c.641_642delinsCA	XP_011537970.1:p.Pro214=
XM_011539669.1:c.641_642delinsCA	XP_011537971.1:p.Pro214=
NM_001318900.1:c.743_744delinsCA	NP_001305829.1:p.Pro248=
NM_001318901.1:c.641_642delinsCA	NP_001305830.1:p.Pro214=
NM_001318902.1:c.641_642delinsCA	NP_001305831.1:p.Pro214=
NM_001318904.1:c.641_642delinsCA	NP_001305833.1:p.Pro214=
NM_001318905.1:c.641_642delinsCA	NP_001305834.1:p.Pro214=
NM_001318906.1:c.641_642delinsCA	NP_001305835.1:p.Pro214=
NM_005271.4:c.1142_1143delinsCA	NP_005262.1:p.Pro381=
NM_005271.5:c.1142_1143delinsCA MANE Select	NP_005262.1:p.Pro381=
NM_001318904.2:c.641_642delinsCA	NP_001305833.1:p.Pro214=
NM_001318905.2:c.641_642delinsCA	NP_001305834.1:p.Pro214=
NM_001318906.2:c.641_642delinsCA	NP_001305835.1:p.Pro214=