Canonical Allele Identifier: CA930867819

Gene: GLUD1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87050333_87050334insAAATTCAAGAAAAAAAAAAAAAATAAAAAAAAAAACAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000672.2:g.87050333_87050334insAAATTCAAGAAAAAAAAAAAAAATAAAAAAAAAAACAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000010.10:g.88810090_88810091insAAATTCAAGAAAAAAAAAAAAAATAAAAAAAAAAACAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000672.1:g.88810090_88810091insAAATTCAAGAAAAAAAAAAAAAATAAAAAAAAAAACAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000010.9:g.88800070_88800071insAAATTCAAGAAAAAAAAAAAAAATAAAAAAAAAAACAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_013010.1:g.49700_49701insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTGTTTTTTTTTTTATTTTTTTTTTTTTTCTTGAATTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000277865.5:c.*1431_*1432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTGTTTTTTTTTTTATTTTTTTTTTTTTTCTTGAATTTTTTTTTTTTTTTTT MANE Select	ENSP00000277865.4:n.*1431_*1432insTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_005271.3:c.*1431_*1432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTGTTTTTTTTTTTATTTTTTTTTTTTTTCTTGAATTTTTTTTTTTTTTTTT	NP_005262.1:n.*1431_*1432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001318900.1:c.*1431_*1432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTGTTTTTTTTTTTATTTTTTTTTTTTTTCTTGAATTTTTTTTTTTTTTTTT	NP_001305829.1:n.*1431_*1432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001318901.1:c.*1431_*1432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTGTTTTTTTTTTTATTTTTTTTTTTTTTCTTGAATTTTTTTTTTTTTTTTT	NP_001305830.1:n.*1431_*1432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001318902.1:c.*1431_*1432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTGTTTTTTTTTTTATTTTTTTTTTTTTTCTTGAATTTTTTTTTTTTTTTTT	NP_001305831.1:n.*1431_*1432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001318904.1:c.*1431_*1432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTGTTTTTTTTTTTATTTTTTTTTTTTTTCTTGAATTTTTTTTTTTTTTTTT	NP_001305833.1:n.*1431_*1432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001318905.1:c.*1431_*1432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTGTTTTTTTTTTTATTTTTTTTTTTTTTCTTGAATTTTTTTTTTTTTTTTT	NP_001305834.1:n.*1431_*1432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001318906.1:c.*1431_*1432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTGTTTTTTTTTTTATTTTTTTTTTTTTTCTTGAATTTTTTTTTTTTTTTTT	NP_001305835.1:n.*1431_*1432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_005271.4:c.*1431_*1432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTGTTTTTTTTTTTATTTTTTTTTTTTTTCTTGAATTTTTTTTTTTTTTTTT	NP_005262.1:n.*1431_*1432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_005271.5:c.*1431_*1432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTGTTTTTTTTTTTATTTTTTTTTTTTTTCTTGAATTTTTTTTTTTTTTTTT MANE Select	NP_005262.1:n.*1431_*1432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001318904.2:c.*1431_*1432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTGTTTTTTTTTTTATTTTTTTTTTTTTTCTTGAATTTTTTTTTTTTTTTTT	NP_001305833.1:n.*1431_*1432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001318905.2:c.*1431_*1432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTGTTTTTTTTTTTATTTTTTTTTTTTTTCTTGAATTTTTTTTTTTTTTTTT	NP_001305834.1:n.*1431_*1432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001318906.2:c.*1431_*1432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTGTTTTTTTTTTTATTTTTTTTTTTTTTCTTGAATTTTTTTTTTTTTTTTT	NP_001305835.1:n.*1431_*1432insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT...