Canonical Allele Identifier: CA594906779

Gene: GLUD1

Linked Data

• dbSNP Id: rs1309835654
• gnomAD v2: 10-88810017-AG-A
• gnomAD v3: 10-87050260-AG-A
• gnomAD v4: 10-87050260-AG-A
• MyVariant Identifiers: chr10:g.88810018del (hg19) ; chr10:g.87050261del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87050263del , CM000672.2:g.87050263del	GRCh38
NC_000010.10:g.88810020del , CM000672.1:g.88810020del	GRCh37
NC_000010.9:g.88800000del	NCBI36
NG_013010.1:g.49759del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000277865.5:c.*1490del MANE Select	ENSP00000277865.4:n.*1490del
NM_005271.3:c.*1490del	NP_005262.1:n.*1490del
NM_001318900.1:c.*1490del	NP_001305829.1:n.*1490del
NM_001318901.1:c.*1490del	NP_001305830.1:n.*1490del
NM_001318902.1:c.*1490del	NP_001305831.1:n.*1490del
NM_001318904.1:c.*1490del	NP_001305833.1:n.*1490del
NM_001318905.1:c.*1490del	NP_001305834.1:n.*1490del
NM_001318906.1:c.*1490del	NP_001305835.1:n.*1490del
NM_005271.4:c.*1490del	NP_005262.1:n.*1490del
NM_005271.5:c.*1490del MANE Select	NP_005262.1:n.*1490del
NM_001318904.2:c.*1490del	NP_001305833.1:n.*1490del
NM_001318905.2:c.*1490del	NP_001305834.1:n.*1490del
NM_001318906.2:c.*1490del	NP_001305835.1:n.*1490del