Canonical Allele Identifier: CA88878929

Gene: ALG3 EIF2B5

Linked Data

• dbSNP Id: rs866984725
• gnomAD v2: 3-183962998-CA-C
• gnomAD v4: 3-184245210-CA-C
• MyVariant Identifiers: chr3:g.183962999del (hg19) ; chr3:g.184245212del (hg38) ; chr3:g.184245211del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245212del , CM000665.2:g.184245212del	GRCh38
NC_000003.11:g.183963000del , CM000665.1:g.183963000del	GRCh37
NC_000003.10:g.185445694del	NCBI36
NG_008924.2:g.9302del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.592del (ALG3) MANE Select	ENSP00000380793.3:p.Cys198AlafsTer10
ENST00000397676.7:c.592del (ALG3)	ENSP00000380793.3:p.Cys198AlafsTer10
ENST00000411922.5:c.*168del (ALG3)	ENSP00000394917.1:n.*168del
ENST00000414845.5:c.337+257del (ALG3)
ENST00000423996.5:c.*357del (ALG3)	ENSP00000407011.1:n.*357del
ENST00000444495.1:c.2106+100505del (EIF2B5)	ENSP00000409142.1:n.2106+100505del
ENST00000445626.6:c.448del (ALG3)	ENSP00000402744.2:p.Cys150AlafsTer10
ENST00000446569.1:c.302del (ALG3)
ENST00000455059.5:c.472del (ALG3)	ENSP00000397613.1:p.Cys158AlafsTer10
ENST00000461415.5:n.565del (ALG3)
ENST00000477959.1:n.132del (ALG3)
ENST00000482048.1:n.581del (ALG3)
ENST00000488976.5:n.477del (ALG3)
NM_001006941.2:c.448del (ALG3)	NP_001006942.1:p.Cys150AlafsTer10
NM_005787.5:c.592del (ALG3)	NP_005778.1:p.Cys198AlafsTer10
NR_024533.1:n.523del (ALG3)
NR_024534.1:n.586del (ALG3)
XM_011512322.1:c.493del (ALG3)	XP_011510624.1:p.Cys165AlafsTer10
XM_011512323.1:c.472del (ALG3)	XP_011510625.1:p.Cys158AlafsTer10
XM_011512323.2:c.472del (ALG3)	XP_011510625.1:p.Cys158AlafsTer10
XM_024453296.1:c.370del (ALG3)	XP_024309064.1:p.Cys124AlafsTer10
NM_005787.6:c.592del (ALG3) MANE Select	NP_005778.1:p.Cys198AlafsTer10