Canonical Allele Identifier: CA2668819893

Gene: ALG3 EIF2B5

Linked Data

• gnomAD v4: 3-184248658-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184248658_184248659insC , CM000665.2:g.184248658_184248659insC	GRCh38
NC_000003.11:g.183966446_183966447insC , CM000665.1:g.183966446_183966447insC	GRCh37
NC_000003.10:g.185449140_185449141insC	NCBI36
NG_008924.2:g.5854_5855insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.196+86_196+87insG (ALG3) MANE Select	ENSP00000380793.3:n.196+86_196+87insG
ENST00000397676.7:c.196+86_196+87insG (ALG3)	ENSP00000380793.3:n.196+86_196+87insG
ENST00000411922.5:c.196+86_196+87insG (ALG3)	ENSP00000394917.1:n.196+86_196+87insG
ENST00000414845.5:c.189+86_189+87insG (ALG3)
ENST00000423996.5:c.159+123_159+124insG (ALG3)	ENSP00000407011.1:n.159+123_159+124insG
ENST00000444495.1:c.2106+103951_2106+103952insC (EIF2B5)	ENSP00000409142.1:n.2106+103951_2106+103952insC
ENST00000445626.6:c.52+567_52+568insG (ALG3)	ENSP00000402744.2:n.52+567_52+568insG
ENST00000446569.1:c.154+123_154+124insG (ALG3)
ENST00000455059.5:c.76+331_76+332insG (ALG3)	ENSP00000397613.1:n.76+331_76+332insG
ENST00000461415.5:n.169+123_169+124insG (ALG3)
ENST00000482048.1:n.185+86_185+87insG (ALG3)
ENST00000488976.5:n.181+123_181+124insG (ALG3)
NM_001006941.2:c.52+567_52+568insG (ALG3)	NP_001006942.1:n.52+567_52+568insG
NM_005787.5:c.196+86_196+87insG (ALG3)	NP_005778.1:n.196+86_196+87insG
NR_024533.1:n.227+86_227+87insG (ALG3)
NR_024534.1:n.190+123_190+124insG (ALG3)
XM_011512323.1:c.76+331_76+332insG (ALG3)	XP_011510625.1:n.76+331_76+332insG
XM_011512323.2:c.76+331_76+332insG (ALG3)	XP_011510625.1:n.76+331_76+332insG
XM_024453296.1:c.-26-2847_-26-2846insG (ALG3)	XP_024309064.1:n.-26-2847_-26-2846insG
NM_005787.6:c.196+86_196+87insG (ALG3) MANE Select	NP_005778.1:n.196+86_196+87insG