Canonical Allele Identifier: CA930867785
Gene: GLUD1 HGNC NCBI

Linked Data

dbSNP Id: rs1845597235
gnomAD v3: 10-87050315-C-CA
gnomAD v4: 10-87050315-C-CA
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87050315_87050316insA , CM000672.2:g.87050315_87050316insA GRCh38
NC_000010.10:g.88810072_88810073insA , CM000672.1:g.88810072_88810073insA GRCh37
NC_000010.9:g.88800052_88800053insA NCBI36
NG_013010.1:g.49704_49705insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000277865.5:c.*1435_*1436insT MANE Select ENSP00000277865.4:n.*1435_*1436insT
NM_005271.3:c.*1435_*1436insT NP_005262.1:n.*1435_*1436insT
NM_001318900.1:c.*1435_*1436insT NP_001305829.1:n.*1435_*1436insT
NM_001318901.1:c.*1435_*1436insT NP_001305830.1:n.*1435_*1436insT
NM_001318902.1:c.*1435_*1436insT NP_001305831.1:n.*1435_*1436insT
NM_001318904.1:c.*1435_*1436insT NP_001305833.1:n.*1435_*1436insT
NM_001318905.1:c.*1435_*1436insT NP_001305834.1:n.*1435_*1436insT
NM_001318906.1:c.*1435_*1436insT NP_001305835.1:n.*1435_*1436insT
NM_005271.4:c.*1435_*1436insT NP_005262.1:n.*1435_*1436insT
NM_005271.5:c.*1435_*1436insT MANE Select NP_005262.1:n.*1435_*1436insT
NM_001318904.2:c.*1435_*1436insT NP_001305833.1:n.*1435_*1436insT
NM_001318905.2:c.*1435_*1436insT NP_001305834.1:n.*1435_*1436insT
NM_001318906.2:c.*1435_*1436insT NP_001305835.1:n.*1435_*1436insT
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