Canonical Allele Identifier: CA1425931065

Gene: ALG3 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245210_184245211delinsCA , CM000665.2:g.184245210_184245211delinsCA	GRCh38
NC_000003.11:g.183962998_183962999delinsCA , CM000665.1:g.183962998_183962999delinsCA	GRCh37
NC_000003.10:g.185445692_185445693delinsCA	NCBI36
NG_008924.2:g.9302_9303delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.592_593delinsTG (ALG3) MANE Select	ENSP00000380793.3:p.Cys198=
ENST00000397676.7:c.592_593delinsTG (ALG3)	ENSP00000380793.3:p.Cys198=
ENST00000411922.5:c.*168_*169delinsTG (ALG3)	ENSP00000394917.1:n.*168_*169delinsTG
ENST00000414845.5:c.337+257_337+258delinsTG (ALG3)
ENST00000423996.5:c.*357_*358delinsTG (ALG3)	ENSP00000407011.1:n.*357_*358delinsTG
ENST00000444495.1:c.2106+100503_2106+100504delinsCA (EIF2B5)	ENSP00000409142.1:n.2106+100503_2106+100504delinsCA
ENST00000445626.6:c.448_449delinsTG (ALG3)	ENSP00000402744.2:p.Cys150=
ENST00000446569.1:c.302_303delinsTG (ALG3)
ENST00000455059.5:c.472_473delinsTG (ALG3)	ENSP00000397613.1:p.Cys158=
ENST00000461415.5:n.565_566delinsTG (ALG3)
ENST00000477959.1:n.132_133delinsTG (ALG3)
ENST00000482048.1:n.581_582delinsTG (ALG3)
ENST00000488976.5:n.477_478delinsTG (ALG3)
NM_001006941.2:c.448_449delinsTG (ALG3)	NP_001006942.1:p.Cys150=
NM_005787.5:c.592_593delinsTG (ALG3)	NP_005778.1:p.Cys198=
NR_024533.1:n.523_524delinsTG (ALG3)
NR_024534.1:n.586_587delinsTG (ALG3)
XM_011512322.1:c.493_494delinsTG (ALG3)	XP_011510624.1:p.Cys165=
XM_011512323.1:c.472_473delinsTG (ALG3)	XP_011510625.1:p.Cys158=
XM_011512323.2:c.472_473delinsTG (ALG3)	XP_011510625.1:p.Cys158=
XM_024453296.1:c.370_371delinsTG (ALG3)	XP_024309064.1:p.Cys124=
NM_005787.6:c.592_593delinsTG (ALG3) MANE Select	NP_005778.1:p.Cys198=