Canonical Allele Identifier: CA2743424257

Gene: EIF2B3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.44978496_44978497insCCAAACACACCCAAC , CM000663.2:g.44978496_44978497insCCAAACACACCCAAC	GRCh38
NC_000001.10:g.45444168_45444169insCCAAACACACCCAAC , CM000663.1:g.45444168_45444169insCCAAACACACCCAAC	GRCh37
NC_000001.9:g.45216755_45216756insCCAAACACACCCAAC	NCBI36
NG_015864.1:g.13193_13194insGTTGGGTGTGTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360403.7:c.149-37_149-36insGTTGGGTGTGTTTGG MANE Select	ENSP00000353575.2:n.149-37_149-36insGTTGGGTGTGTTTGG
ENST00000360403.6:c.149-37_149-36insGTTGGGTGTGTTTGG	ENSP00000353575.2:n.149-37_149-36insGTTGGGTGTGTTTGG
ENST00000372182.6:n.262-37_262-36insGTTGGGTGTGTTTGG
ENST00000372183.7:c.149-37_149-36insGTTGGGTGTGTTTGG	ENSP00000361257.3:n.149-37_149-36insGTTGGGTGTGTTTGG
ENST00000477953.5:n.252-37_252-36insGTTGGGTGTGTTTGG
ENST00000480675.5:c.149-37_149-36insGTTGGGTGTGTTTGG	ENSP00000485842.1:n.149-37_149-36insGTTGGGTGTGTTTGG
ENST00000487532.5:n.261-37_261-36insGTTGGGTGTGTTTGG
ENST00000497010.1:n.261-37_261-36insGTTGGGTGTGTTTGG
ENST00000620860.4:c.149-37_149-36insGTTGGGTGTGTTTGG	ENSP00000483996.1:n.149-37_149-36insGTTGGGTGTGTTTGG
NM_001166588.2:c.149-37_149-36insGTTGGGTGTGTTTGG	NP_001160060.1:n.149-37_149-36insGTTGGGTGTGTTTGG
NM_001261418.1:c.149-37_149-36insGTTGGGTGTGTTTGG	NP_001248347.1:n.149-37_149-36insGTTGGGTGTGTTTGG
NM_020365.4:c.149-37_149-36insGTTGGGTGTGTTTGG	NP_065098.1:n.149-37_149-36insGTTGGGTGTGTTTGG
XM_011542396.1:c.149-37_149-36insGTTGGGTGTGTTTGG	XP_011540698.1:n.149-37_149-36insGTTGGGTGTGTTTGG
XM_017002745.2:c.149-37_149-36insGTTGGGTGTGTTTGG	XP_016858234.1:n.149-37_149-36insGTTGGGTGTGTTTGG
XM_017002746.1:c.-306-37_-306-36insGTTGGGTGTGTTTGG	XP_016858235.1:n.-306-37_-306-36insGTTGGGTGTGTTTGG
XM_017002747.1:c.-306-37_-306-36insGTTGGGTGTGTTTGG	XP_016858236.1:n.-306-37_-306-36insGTTGGGTGTGTTTGG
NM_020365.5:c.149-37_149-36insGTTGGGTGTGTTTGG MANE Select	NP_065098.1:n.149-37_149-36insGTTGGGTGTGTTTGG
NM_001166588.3:c.149-37_149-36insGTTGGGTGTGTTTGG	NP_001160060.1:n.149-37_149-36insGTTGGGTGTGTTTGG
NM_001261418.2:c.149-37_149-36insGTTGGGTGTGTTTGG	NP_001248347.1:n.149-37_149-36insGTTGGGTGTGTTTGG