Canonical Allele Identifier: CA2577976430

Gene: ALG3 EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184248676_184248678del , CM000665.2:g.184248676_184248678del	GRCh38
NC_000003.11:g.183966464_183966466del , CM000665.1:g.183966464_183966466del	GRCh37
NC_000003.10:g.185449158_185449160del	NCBI36
NG_008924.2:g.5835_5837del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.196+67_196+69del (ALG3) MANE Select	ENSP00000380793.3:n.196+67_196+69del
ENST00000397676.7:c.196+67_196+69del (ALG3)	ENSP00000380793.3:n.196+67_196+69del
ENST00000411922.5:c.196+67_196+69del (ALG3)	ENSP00000394917.1:n.196+67_196+69del
ENST00000414845.5:c.189+67_189+69del (ALG3)
ENST00000423996.5:c.159+104_159+106del (ALG3)	ENSP00000407011.1:n.159+104_159+106del
ENST00000444495.1:c.2106+103969_2106+103971del (EIF2B5)	ENSP00000409142.1:n.2106+103969_2106+103971del
ENST00000445626.6:c.52+548_52+550del (ALG3)	ENSP00000402744.2:n.52+548_52+550del
ENST00000446569.1:c.154+104_154+106del (ALG3)
ENST00000455059.5:c.76+312_76+314del (ALG3)	ENSP00000397613.1:n.76+312_76+314del
ENST00000461415.5:n.169+104_169+106del (ALG3)
ENST00000482048.1:n.185+67_185+69del (ALG3)
ENST00000488976.5:n.181+104_181+106del (ALG3)
NM_001006941.2:c.52+548_52+550del (ALG3)	NP_001006942.1:n.52+548_52+550del
NM_005787.5:c.196+67_196+69del (ALG3)	NP_005778.1:n.196+67_196+69del
NR_024533.1:n.227+67_227+69del (ALG3)
NR_024534.1:n.190+104_190+106del (ALG3)
XM_011512323.1:c.76+312_76+314del (ALG3)	XP_011510625.1:n.76+312_76+314del
XM_011512323.2:c.76+312_76+314del (ALG3)	XP_011510625.1:n.76+312_76+314del
XM_024453296.1:c.-26-2866_-26-2864del (ALG3)	XP_024309064.1:n.-26-2866_-26-2864del
NM_005787.6:c.196+67_196+69del (ALG3) MANE Select	NP_005778.1:n.196+67_196+69del