Canonical Allele Identifier: CA2668818553

Gene: ALG3 EIF2B5

Linked Data

• gnomAD v4: 3-184245272-C-CACT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245273_184245275dup , CM000665.2:g.184245273_184245275dup	GRCh38
NC_000003.11:g.183963061_183963063dup , CM000665.1:g.183963061_183963063dup	GRCh37
NC_000003.10:g.185445755_185445757dup	NCBI36
NG_008924.2:g.9238_9240dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.528_530dup (ALG3) MANE Select	ENSP00000380793.3:p.Val177_Ala178insVal
ENST00000397676.7:c.528_530dup (ALG3)	ENSP00000380793.3:p.Val177_Ala178insVal
ENST00000411922.5:c.*104_*106dup (ALG3)	ENSP00000394917.1:n.*104_*106dup
ENST00000414845.5:c.337+193_337+195dup (ALG3)
ENST00000423996.5:c.*293_*295dup (ALG3)	ENSP00000407011.1:n.*293_*295dup
ENST00000444495.1:c.2106+100566_2106+100568dup (EIF2B5)	ENSP00000409142.1:n.2106+100566_2106+100568dup
ENST00000445626.6:c.384_386dup (ALG3)	ENSP00000402744.2:p.Val129_Ala130insVal
ENST00000446569.1:c.238_240dup (ALG3)
ENST00000455059.5:c.408_410dup (ALG3)	ENSP00000397613.1:p.Val137_Ala138insVal
ENST00000461415.5:n.501_503dup (ALG3)
ENST00000477959.1:n.68_70dup (ALG3)
ENST00000482048.1:n.517_519dup (ALG3)
ENST00000488976.5:n.413_415dup (ALG3)
NM_001006941.2:c.384_386dup (ALG3)	NP_001006942.1:p.Val129_Ala130insVal
NM_005787.5:c.528_530dup (ALG3)	NP_005778.1:p.Val177_Ala178insVal
NR_024533.1:n.459_461dup (ALG3)
NR_024534.1:n.522_524dup (ALG3)
XM_011512322.1:c.429_431dup (ALG3)	XP_011510624.1:p.Val144_Ala145insVal
XM_011512323.1:c.408_410dup (ALG3)	XP_011510625.1:p.Val137_Ala138insVal
XM_011512323.2:c.408_410dup (ALG3)	XP_011510625.1:p.Val137_Ala138insVal
XM_024453296.1:c.306_308dup (ALG3)	XP_024309064.1:p.Val103_Ala104insVal
NM_005787.6:c.528_530dup (ALG3) MANE Select	NP_005778.1:p.Val177_Ala178insVal