Canonical Allele Identifier: CA88878978

Gene: ALG3 EIF2B5

Linked Data

• dbSNP Id: rs901215720
• MyVariant Identifiers: chr3:g.183963025_183963027del (hg19) ; chr3:g.184245237_184245239del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245240_184245242del , CM000665.2:g.184245240_184245242del	GRCh38
NC_000003.11:g.183963028_183963030del , CM000665.1:g.183963028_183963030del	GRCh37
NC_000003.10:g.185445722_185445724del	NCBI36
NG_008924.2:g.9274_9276del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.564_566del (ALG3) MANE Select	ENSP00000380793.3:p.Leu189del
ENST00000397676.7:c.564_566del (ALG3)	ENSP00000380793.3:p.Leu189del
ENST00000411922.5:c.*140_*142del (ALG3)	ENSP00000394917.1:n.*140_*142del
ENST00000414845.5:c.337+229_337+231del (ALG3)
ENST00000423996.5:c.*329_*331del (ALG3)	ENSP00000407011.1:n.*329_*331del
ENST00000444495.1:c.2106+100533_2106+100535del (EIF2B5)	ENSP00000409142.1:n.2106+100533_2106+100535del
ENST00000445626.6:c.420_422del (ALG3)	ENSP00000402744.2:p.Leu141del
ENST00000446569.1:c.274_276del (ALG3)
ENST00000455059.5:c.444_446del (ALG3)	ENSP00000397613.1:p.Leu149del
ENST00000461415.5:n.537_539del (ALG3)
ENST00000477959.1:n.104_106del (ALG3)
ENST00000482048.1:n.553_555del (ALG3)
ENST00000488976.5:n.449_451del (ALG3)
NM_001006941.2:c.420_422del (ALG3)	NP_001006942.1:p.Leu141del
NM_005787.5:c.564_566del (ALG3)	NP_005778.1:p.Leu189del
NR_024533.1:n.495_497del (ALG3)
NR_024534.1:n.558_560del (ALG3)
XM_011512322.1:c.465_467del (ALG3)	XP_011510624.1:p.Leu156del
XM_011512323.1:c.444_446del (ALG3)	XP_011510625.1:p.Leu149del
XM_011512323.2:c.444_446del (ALG3)	XP_011510625.1:p.Leu149del
XM_024453296.1:c.342_344del (ALG3)	XP_024309064.1:p.Leu115del
NM_005787.6:c.564_566del (ALG3) MANE Select	NP_005778.1:p.Leu189del