Canonical Allele Identifier: CA2610018728

Gene: GLUD1

Linked Data

• gnomAD v4: 10-87060674-TATA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87060677_87060679del , CM000672.2:g.87060677_87060679del	GRCh38
NC_000010.10:g.88820434_88820436del , CM000672.1:g.88820434_88820436del	GRCh37
NC_000010.9:g.88810414_88810416del	NCBI36
NG_013010.1:g.39343_39345del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474574.2:n.2772+11_2772+13del
ENST00000487058.2:n.509_511del
ENST00000681987.1:n.1035+11_1035+13del
ENST00000681988.1:c.696+11_696+13del	ENSP00000507316.1:n.696+11_696+13del
ENST00000682396.1:c.1188+11_1188+13del	ENSP00000506764.1:n.1188+11_1188+13del
ENST00000682507.1:c.696+11_696+13del	ENSP00000508098.1:n.696+11_696+13del
ENST00000682622.1:c.1477+11_1477+13del	ENSP00000506732.1:n.1477+11_1477+13del
ENST00000682833.1:c.1032+11_1032+13del
ENST00000683022.1:c.1218+11_1218+13del
ENST00000683256.1:c.696+11_696+13del	ENSP00000507901.1:n.696+11_696+13del
ENST00000683269.1:c.696+11_696+13del	ENSP00000508107.1:n.696+11_696+13del
ENST00000683647.1:n.4531+11_4531+13del
ENST00000683783.1:c.696+11_696+13del	ENSP00000507881.1:n.696+11_696+13del
ENST00000683813.1:n.925+11_925+13del
ENST00000684032.1:c.1052+11_1052+13del	ENSP00000506969.1:n.1052+11_1052+13del
ENST00000684201.1:c.922-436_922-434del	ENSP00000507887.1:n.922-436_922-434del
ENST00000684338.1:c.1197+11_1197+13del	ENSP00000507457.1:n.1197+11_1197+13del
ENST00000684372.1:c.696+11_696+13del	ENSP00000508244.1:n.696+11_696+13del
ENST00000684434.1:c.668+11_668+13del
ENST00000684546.1:c.696+11_696+13del	ENSP00000507729.1:n.696+11_696+13del
ENST00000684690.1:n.989_991del
ENST00000684699.1:n.3341_3343del
ENST00000277865.5:c.1197+11_1197+13del MANE Select	ENSP00000277865.4:n.1197+11_1197+13del
ENST00000277865.4:c.1197+11_1197+13del	ENSP00000277865.4:n.1197+11_1197+13del
ENST00000465164.1:n.287_289del
NM_005271.3:c.1197+11_1197+13del	NP_005262.1:n.1197+11_1197+13del
XM_011539668.1:c.696+11_696+13del	XP_011537970.1:n.696+11_696+13del
XM_011539669.1:c.696+11_696+13del	XP_011537971.1:n.696+11_696+13del
NM_001318900.1:c.798+11_798+13del	NP_001305829.1:n.798+11_798+13del
NM_001318901.1:c.696+11_696+13del	NP_001305830.1:n.696+11_696+13del
NM_001318902.1:c.696+11_696+13del	NP_001305831.1:n.696+11_696+13del
NM_001318904.1:c.696+11_696+13del	NP_001305833.1:n.696+11_696+13del
NM_001318905.1:c.696+11_696+13del	NP_001305834.1:n.696+11_696+13del
NM_001318906.1:c.696+11_696+13del	NP_001305835.1:n.696+11_696+13del
NM_005271.4:c.1197+11_1197+13del	NP_005262.1:n.1197+11_1197+13del
NM_005271.5:c.1197+11_1197+13del MANE Select	NP_005262.1:n.1197+11_1197+13del
NM_001318904.2:c.696+11_696+13del	NP_001305833.1:n.696+11_696+13del
NM_001318905.2:c.696+11_696+13del	NP_001305834.1:n.696+11_696+13del
NM_001318906.2:c.696+11_696+13del	NP_001305835.1:n.696+11_696+13del