Canonical Allele Identifier: CA2668818512

Gene: ALG3 EIF2B5

Linked Data

• gnomAD v4: 3-184245225-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245226dup , CM000665.2:g.184245226dup	GRCh38
NC_000003.11:g.183963014dup , CM000665.1:g.183963014dup	GRCh37
NC_000003.10:g.185445708dup	NCBI36
NG_008924.2:g.9287dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.577dup (ALG3) MANE Select	ENSP00000380793.3:p.Arg193ProfsTer?
ENST00000397676.7:c.577dup (ALG3)	ENSP00000380793.3:p.Arg193ProfsTer?
ENST00000411922.5:c.*153dup (ALG3)	ENSP00000394917.1:n.*153dup
ENST00000414845.5:c.337+242dup (ALG3)
ENST00000423996.5:c.*342dup (ALG3)	ENSP00000407011.1:n.*342dup
ENST00000444495.1:c.2106+100519dup (EIF2B5)	ENSP00000409142.1:n.2106+100519dup
ENST00000445626.6:c.433dup (ALG3)	ENSP00000402744.2:p.Arg145ProfsTer?
ENST00000446569.1:c.287dup (ALG3)
ENST00000455059.5:c.457dup (ALG3)	ENSP00000397613.1:p.Arg153ProfsTer?
ENST00000461415.5:n.550dup (ALG3)
ENST00000477959.1:n.117dup (ALG3)
ENST00000482048.1:n.566dup (ALG3)
ENST00000488976.5:n.462dup (ALG3)
NM_001006941.2:c.433dup (ALG3)	NP_001006942.1:p.Arg145ProfsTer?
NM_005787.5:c.577dup (ALG3)	NP_005778.1:p.Arg193ProfsTer?
NR_024533.1:n.508dup (ALG3)
NR_024534.1:n.571dup (ALG3)
XM_011512322.1:c.478dup (ALG3)	XP_011510624.1:p.Arg160ProfsTer?
XM_011512323.1:c.457dup (ALG3)	XP_011510625.1:p.Arg153ProfsTer?
XM_011512323.2:c.457dup (ALG3)	XP_011510625.1:p.Arg153ProfsTer?
XM_024453296.1:c.355dup (ALG3)	XP_024309064.1:p.Arg119ProfsTer?
NM_005787.6:c.577dup (ALG3) MANE Select	NP_005778.1:p.Arg193ProfsTer?