Canonical Allele Identifier: CA548401089

Gene: ALG3 EIF2B5

Linked Data

• dbSNP Id: rs1248985474
• gnomAD v2: 3-183962874-CCT-C
• gnomAD v4: 3-184245086-CCT-C
• MyVariant Identifiers: chr3:g.183962875_183962876del (hg19) ; chr3:g.184245087_184245088del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184245087_184245088del , CM000665.2:g.184245087_184245088del	GRCh38
NC_000003.11:g.183962875_183962876del , CM000665.1:g.183962875_183962876del	GRCh37
NC_000003.10:g.185445569_185445570del	NCBI36
NG_008924.2:g.9425_9426del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.605+110_605+111del (ALG3) MANE Select	ENSP00000380793.3:n.605+110_605+111del
ENST00000397676.7:c.605+110_605+111del (ALG3)	ENSP00000380793.3:n.605+110_605+111del
ENST00000411922.5:c.*181+110_*181+111del (ALG3)	ENSP00000394917.1:n.*181+110_*181+111del
ENST00000414845.5:c.338-367_338-366del (ALG3)
ENST00000423996.5:c.*370+110_*370+111del (ALG3)	ENSP00000407011.1:n.*370+110_*370+111del
ENST00000444495.1:c.2106+100380_2106+100381del (EIF2B5)	ENSP00000409142.1:n.2106+100380_2106+100381del
ENST00000445626.6:c.461+110_461+111del (ALG3)	ENSP00000402744.2:n.461+110_461+111del
ENST00000446569.1:c.315+110_315+111del (ALG3)
ENST00000455059.5:c.485+110_485+111del (ALG3)	ENSP00000397613.1:n.485+110_485+111del
ENST00000461415.5:n.688_689del (ALG3)
ENST00000477959.1:n.145+110_145+111del (ALG3)
ENST00000482048.1:n.704_705del (ALG3)
ENST00000488976.5:n.600_601del (ALG3)
NM_001006941.2:c.461+110_461+111del (ALG3)	NP_001006942.1:n.461+110_461+111del
NM_005787.5:c.605+110_605+111del (ALG3)	NP_005778.1:n.605+110_605+111del
NR_024533.1:n.536+110_536+111del (ALG3)
NR_024534.1:n.599+110_599+111del (ALG3)
XM_011512322.1:c.506+110_506+111del (ALG3)	XP_011510624.1:n.506+110_506+111del
XM_011512323.1:c.485+110_485+111del (ALG3)	XP_011510625.1:n.485+110_485+111del
XM_011512323.2:c.485+110_485+111del (ALG3)	XP_011510625.1:n.485+110_485+111del
XM_024453296.1:c.383+110_383+111del (ALG3)	XP_024309064.1:n.383+110_383+111del
NM_005787.6:c.605+110_605+111del (ALG3) MANE Select	NP_005778.1:n.605+110_605+111del