Canonical Allele Identifier: CA2668819946

Gene: ALG3 EIF2B5

Linked Data

• gnomAD v4: 3-184248682-T-TCATTAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184248683_184248684insATTAAAAAAC , CM000665.2:g.184248683_184248684insATTAAAAAAC	GRCh38
NC_000003.11:g.183966471_183966472insATTAAAAAAC , CM000665.1:g.183966471_183966472insATTAAAAAAC	GRCh37
NC_000003.10:g.185449165_185449166insATTAAAAAAC	NCBI36
NG_008924.2:g.5830_5831insTTTTTTAATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.196+62_196+63insTTTTTTAATG (ALG3) MANE Select	ENSP00000380793.3:n.196+62_196+63insTTTTTTAATG
ENST00000397676.7:c.196+62_196+63insTTTTTTAATG (ALG3)	ENSP00000380793.3:n.196+62_196+63insTTTTTTAATG
ENST00000411922.5:c.196+62_196+63insTTTTTTAATG (ALG3)	ENSP00000394917.1:n.196+62_196+63insTTTTTTAATG
ENST00000414845.5:c.189+62_189+63insTTTTTTAATG (ALG3)
ENST00000423996.5:c.159+99_159+100insTTTTTTAATG (ALG3)	ENSP00000407011.1:n.159+99_159+100insTTTTTTAATG
ENST00000444495.1:c.2106+103976_2106+103977insATTAAAAAAC (EIF2B5)	ENSP00000409142.1:n.2106+103976_2106+103977insATTAAAAAAC
ENST00000445626.6:c.52+543_52+544insTTTTTTAATG (ALG3)	ENSP00000402744.2:n.52+543_52+544insTTTTTTAATG
ENST00000446569.1:c.154+99_154+100insTTTTTTAATG (ALG3)
ENST00000455059.5:c.76+307_76+308insTTTTTTAATG (ALG3)	ENSP00000397613.1:n.76+307_76+308insTTTTTTAATG
ENST00000461415.5:n.169+99_169+100insTTTTTTAATG (ALG3)
ENST00000482048.1:n.185+62_185+63insTTTTTTAATG (ALG3)
ENST00000488976.5:n.181+99_181+100insTTTTTTAATG (ALG3)
NM_001006941.2:c.52+543_52+544insTTTTTTAATG (ALG3)	NP_001006942.1:n.52+543_52+544insTTTTTTAATG
NM_005787.5:c.196+62_196+63insTTTTTTAATG (ALG3)	NP_005778.1:n.196+62_196+63insTTTTTTAATG
NR_024533.1:n.227+62_227+63insTTTTTTAATG (ALG3)
NR_024534.1:n.190+99_190+100insTTTTTTAATG (ALG3)
XM_011512323.1:c.76+307_76+308insTTTTTTAATG (ALG3)	XP_011510625.1:n.76+307_76+308insTTTTTTAATG
XM_011512323.2:c.76+307_76+308insTTTTTTAATG (ALG3)	XP_011510625.1:n.76+307_76+308insTTTTTTAATG
XM_024453296.1:c.-26-2871_-26-2870insTTTTTTAATG (ALG3)	XP_024309064.1:n.-26-2871_-26-2870insTTTTTTAATG
NM_005787.6:c.196+62_196+63insTTTTTTAATG (ALG3) MANE Select	NP_005778.1:n.196+62_196+63insTTTTTTAATG