Canonical Allele Identifier: CA736132443

Gene: EIF2B3

Linked Data

• dbSNP Id: rs1456079304
• MyVariant Identifiers: chr1:g.45444302_45444303insG (hg19) ; chr1:g.44978630_44978631insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.44978630_44978631insG , CM000663.2:g.44978630_44978631insG	GRCh38
NC_000001.10:g.45444302_45444303insG , CM000663.1:g.45444302_45444303insG	GRCh37
NC_000001.9:g.45216889_45216890insG	NCBI36
NG_015864.1:g.13059_13060insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360403.7:c.149-171_149-170insC MANE Select	ENSP00000353575.2:n.149-171_149-170insC
ENST00000360403.6:c.149-171_149-170insC	ENSP00000353575.2:n.149-171_149-170insC
ENST00000372182.6:n.262-171_262-170insC
ENST00000372183.7:c.149-171_149-170insC	ENSP00000361257.3:n.149-171_149-170insC
ENST00000477953.5:n.252-171_252-170insC
ENST00000480675.5:c.149-171_149-170insC	ENSP00000485842.1:n.149-171_149-170insC
ENST00000487532.5:n.261-171_261-170insC
ENST00000497010.1:n.261-171_261-170insC
ENST00000620860.4:c.149-171_149-170insC	ENSP00000483996.1:n.149-171_149-170insC
NM_001166588.2:c.149-171_149-170insC	NP_001160060.1:n.149-171_149-170insC
NM_001261418.1:c.149-171_149-170insC	NP_001248347.1:n.149-171_149-170insC
NM_020365.4:c.149-171_149-170insC	NP_065098.1:n.149-171_149-170insC
XM_011542396.1:c.149-171_149-170insC	XP_011540698.1:n.149-171_149-170insC
XM_017002745.2:c.149-171_149-170insC	XP_016858234.1:n.149-171_149-170insC
XM_017002746.1:c.-306-171_-306-170insC	XP_016858235.1:n.-306-171_-306-170insC
XM_017002747.1:c.-306-171_-306-170insC	XP_016858236.1:n.-306-171_-306-170insC
NM_020365.5:c.149-171_149-170insC MANE Select	NP_065098.1:n.149-171_149-170insC
NM_001166588.3:c.149-171_149-170insC	NP_001160060.1:n.149-171_149-170insC
NM_001261418.2:c.149-171_149-170insC	NP_001248347.1:n.149-171_149-170insC