Canonical Allele Identifier: CA2574620305

Gene: GLUD1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87051684del , CM000672.2:g.87051684del	GRCh38
NC_000010.10:g.88811441del , CM000672.1:g.88811441del	GRCh37
NC_000010.9:g.88801421del	NCBI36
NG_013010.1:g.48336del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474574.2:n.3319del
ENST00000487058.2:n.1491del
ENST00000681987.1:n.1582del
ENST00000681988.1:c.*67del	ENSP00000507316.1:n.*67del
ENST00000682396.1:c.1735del	ENSP00000506764.1:n.1735del
ENST00000682507.1:c.*67del	ENSP00000508098.1:n.*67del
ENST00000682622.1:c.2024del	ENSP00000506732.1:n.2024del
ENST00000682833.1:c.1579del
ENST00000683022.1:c.1765del
ENST00000683256.1:c.*67del	ENSP00000507901.1:n.*67del
ENST00000683269.1:c.*67del	ENSP00000508107.1:n.*67del
ENST00000683647.1:n.5078del
ENST00000683649.1:n.594del
ENST00000683783.1:c.*67del	ENSP00000507881.1:n.*67del
ENST00000683813.1:n.1472del
ENST00000684032.1:c.1599del	ENSP00000506969.1:n.1599del
ENST00000684201.1:c.*67del	ENSP00000507887.1:n.*67del
ENST00000684338.1:c.1822del	ENSP00000507457.1:n.1822del
ENST00000684372.1:c.*67del	ENSP00000508244.1:n.*67del
ENST00000684434.1:c.1215del
ENST00000684546.1:c.*67del	ENSP00000507729.1:n.*67del
ENST00000684665.1:n.708del
ENST00000684690.1:n.1971del
ENST00000684699.1:n.4323del
ENST00000277865.5:c.*67del MANE Select	ENSP00000277865.4:n.*67del
ENST00000277865.4:c.*67del	ENSP00000277865.4:n.*67del
NM_005271.3:c.*67del	NP_005262.1:n.*67del
XM_011539668.1:c.*67del	XP_011537970.1:n.*67del
XM_011539669.1:c.*67del	XP_011537971.1:n.*67del
NM_001318900.1:c.*67del	NP_001305829.1:n.*67del
NM_001318901.1:c.*67del	NP_001305830.1:n.*67del
NM_001318902.1:c.*67del	NP_001305831.1:n.*67del
NM_001318904.1:c.*67del	NP_001305833.1:n.*67del
NM_001318905.1:c.*67del	NP_001305834.1:n.*67del
NM_001318906.1:c.*67del	NP_001305835.1:n.*67del
NM_005271.4:c.*67del	NP_005262.1:n.*67del
NM_005271.5:c.*67del MANE Select	NP_005262.1:n.*67del
NM_001318904.2:c.*67del	NP_001305833.1:n.*67del
NM_001318905.2:c.*67del	NP_001305834.1:n.*67del
NM_001318906.2:c.*67del	NP_001305835.1:n.*67del