Canonical Allele Identifier: CA2668819897

Gene: ALG3 EIF2B5

Linked Data

• gnomAD v4: 3-184248661-TTTGGAGTTCCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184248662_184248672del , CM000665.2:g.184248662_184248672del	GRCh38
NC_000003.11:g.183966450_183966460del , CM000665.1:g.183966450_183966460del	GRCh37
NC_000003.10:g.185449144_185449154del	NCBI36
NG_008924.2:g.5841_5851del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397676.8:c.196+73_196+83del (ALG3) MANE Select	ENSP00000380793.3:n.196+73_196+83del
ENST00000397676.7:c.196+73_196+83del (ALG3)	ENSP00000380793.3:n.196+73_196+83del
ENST00000411922.5:c.196+73_196+83del (ALG3)	ENSP00000394917.1:n.196+73_196+83del
ENST00000414845.5:c.189+73_189+83del (ALG3)
ENST00000423996.5:c.159+110_159+120del (ALG3)	ENSP00000407011.1:n.159+110_159+120del
ENST00000444495.1:c.2106+103955_2106+103965del (EIF2B5)	ENSP00000409142.1:n.2106+103955_2106+103965del
ENST00000445626.6:c.52+554_52+564del (ALG3)	ENSP00000402744.2:n.52+554_52+564del
ENST00000446569.1:c.154+110_154+120del (ALG3)
ENST00000455059.5:c.76+318_76+328del (ALG3)	ENSP00000397613.1:n.76+318_76+328del
ENST00000461415.5:n.169+110_169+120del (ALG3)
ENST00000482048.1:n.185+73_185+83del (ALG3)
ENST00000488976.5:n.181+110_181+120del (ALG3)
NM_001006941.2:c.52+554_52+564del (ALG3)	NP_001006942.1:n.52+554_52+564del
NM_005787.5:c.196+73_196+83del (ALG3)	NP_005778.1:n.196+73_196+83del
NR_024533.1:n.227+73_227+83del (ALG3)
NR_024534.1:n.190+110_190+120del (ALG3)
XM_011512323.1:c.76+318_76+328del (ALG3)	XP_011510625.1:n.76+318_76+328del
XM_011512323.2:c.76+318_76+328del (ALG3)	XP_011510625.1:n.76+318_76+328del
XM_024453296.1:c.-26-2860_-26-2850del (ALG3)	XP_024309064.1:n.-26-2860_-26-2850del
NM_005787.6:c.196+73_196+83del (ALG3) MANE Select	NP_005778.1:n.196+73_196+83del