Canonical Allele Identifier: CA2559916069

Gene: ALG3 EIF2B5

Linked Data

• gnomAD v4: 3-184245524-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245525del , CM000665.2:g.184245525del	GRCh38
NC_000003.11:g.183963313del , CM000665.1:g.183963313del	GRCh37
NC_000003.10:g.185446007del	NCBI36
NG_008924.2:g.8988del

Transcript Alleles

HGVS	Amino-acid change
ENST00000397676.8:c.387del (ALG3) MANE Select	ENSP00000380793.3:p.Val130CysfsTer12
ENST00000397676.7:c.387del (ALG3)	ENSP00000380793.3:p.Val130CysfsTer12
ENST00000411922.5:c.287del (ALG3)	ENSP00000394917.1:p.Leu96ArgfsTer?
ENST00000414845.5:c.280del (ALG3)
ENST00000423996.5:c.*152del (ALG3)	ENSP00000407011.1:n.*152del
ENST00000444495.1:c.2106+100818del (EIF2B5)	ENSP00000409142.1:n.2106+100818del
ENST00000445626.6:c.243del (ALG3)	ENSP00000402744.2:p.Val82CysfsTer12
ENST00000446569.1:c.155-167del (ALG3)
ENST00000455059.5:c.267del (ALG3)	ENSP00000397613.1:p.Val90CysfsTer12
ENST00000461415.5:n.360del (ALG3)
ENST00000482048.1:n.376del (ALG3)
ENST00000488976.5:n.272del (ALG3)
NM_001006941.2:c.243del (ALG3)	NP_001006942.1:p.Val82CysfsTer12
NM_005787.5:c.387del (ALG3)	NP_005778.1:p.Val130CysfsTer12
NR_024533.1:n.318del (ALG3)
NR_024534.1:n.381del (ALG3)
XM_011512322.1:c.288del (ALG3)	XP_011510624.1:p.Val97CysfsTer12
XM_011512323.1:c.267del (ALG3)	XP_011510625.1:p.Val90CysfsTer12
XM_011512323.2:c.267del (ALG3)	XP_011510625.1:p.Val90CysfsTer12
XM_024453296.1:c.165del (ALG3)	XP_024309064.1:p.Val56CysfsTer12
NM_005787.6:c.387del (ALG3) MANE Select	NP_005778.1:p.Val130CysfsTer12