Canonical Allele Identifier: CA2597067564

Gene: EIF2B3

Linked Data

• dbSNP Id: rs2148964511
• gnomAD v3: 1-44978631-T-TC
• gnomAD v4: 1-44978631-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.44978631_44978632insC , CM000663.2:g.44978631_44978632insC	GRCh38
NC_000001.10:g.45444303_45444304insC , CM000663.1:g.45444303_45444304insC	GRCh37
NC_000001.9:g.45216890_45216891insC	NCBI36
NG_015864.1:g.13058_13059insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360403.7:c.149-172_149-171insG MANE Select	ENSP00000353575.2:n.149-172_149-171insG
ENST00000360403.6:c.149-172_149-171insG	ENSP00000353575.2:n.149-172_149-171insG
ENST00000372182.6:n.262-172_262-171insG
ENST00000372183.7:c.149-172_149-171insG	ENSP00000361257.3:n.149-172_149-171insG
ENST00000477953.5:n.252-172_252-171insG
ENST00000480675.5:c.149-172_149-171insG	ENSP00000485842.1:n.149-172_149-171insG
ENST00000487532.5:n.261-172_261-171insG
ENST00000497010.1:n.261-172_261-171insG
ENST00000620860.4:c.149-172_149-171insG	ENSP00000483996.1:n.149-172_149-171insG
NM_001166588.2:c.149-172_149-171insG	NP_001160060.1:n.149-172_149-171insG
NM_001261418.1:c.149-172_149-171insG	NP_001248347.1:n.149-172_149-171insG
NM_020365.4:c.149-172_149-171insG	NP_065098.1:n.149-172_149-171insG
XM_011542396.1:c.149-172_149-171insG	XP_011540698.1:n.149-172_149-171insG
XM_017002745.2:c.149-172_149-171insG	XP_016858234.1:n.149-172_149-171insG
XM_017002746.1:c.-306-172_-306-171insG	XP_016858235.1:n.-306-172_-306-171insG
XM_017002747.1:c.-306-172_-306-171insG	XP_016858236.1:n.-306-172_-306-171insG
NM_020365.5:c.149-172_149-171insG MANE Select	NP_065098.1:n.149-172_149-171insG
NM_001166588.3:c.149-172_149-171insG	NP_001160060.1:n.149-172_149-171insG
NM_001261418.2:c.149-172_149-171insG	NP_001248347.1:n.149-172_149-171insG