Canonical Allele Identifier: CA2722511023
Gene: GLUD1 HGNC NCBI

Linked Data

dbSNP Id: rs2133770815

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87050440del , CM000672.2:g.87050440del GRCh38
NC_000010.10:g.88810197del , CM000672.1:g.88810197del GRCh37
NC_000010.9:g.88800177del NCBI36
NG_013010.1:g.49580del

Transcript Alleles

HGVS Amino-acid change
ENST00000277865.5:c.*1311del MANE Select ENSP00000277865.4:n.*1311del
NM_005271.3:c.*1311del NP_005262.1:n.*1311del
NM_001318900.1:c.*1311del NP_001305829.1:n.*1311del
NM_001318901.1:c.*1311del NP_001305830.1:n.*1311del
NM_001318902.1:c.*1311del NP_001305831.1:n.*1311del
NM_001318904.1:c.*1311del NP_001305833.1:n.*1311del
NM_001318905.1:c.*1311del NP_001305834.1:n.*1311del
NM_001318906.1:c.*1311del NP_001305835.1:n.*1311del
NM_005271.4:c.*1311del NP_005262.1:n.*1311del
NM_005271.5:c.*1311del MANE Select NP_005262.1:n.*1311del
NM_001318904.2:c.*1311del NP_001305833.1:n.*1311del
NM_001318905.2:c.*1311del NP_001305834.1:n.*1311del
NM_001318906.2:c.*1311del NP_001305835.1:n.*1311del