Canonical Allele Identifier: CA2739272535

Gene: EIF2B3

Linked Data

• ClinVar Variation Id: 2829702
• ClinVar RCV Id: RCV003686400

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.44978478_44978481del , CM000663.2:g.44978478_44978481del	GRCh38
NC_000001.10:g.45444150_45444153del , CM000663.1:g.45444150_45444153del	GRCh37
NC_000001.9:g.45216737_45216740del	NCBI36
NG_015864.1:g.13212_13215del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360403.7:c.149-18_149-15del MANE Select	ENSP00000353575.2:n.149-18_149-15del
ENST00000360403.6:c.149-18_149-15del	ENSP00000353575.2:n.149-18_149-15del
ENST00000372182.6:n.262-18_262-15del
ENST00000372183.7:c.149-18_149-15del	ENSP00000361257.3:n.149-18_149-15del
ENST00000477953.5:n.252-18_252-15del
ENST00000480675.5:c.149-18_149-15del	ENSP00000485842.1:n.149-18_149-15del
ENST00000487532.5:n.261-18_261-15del
ENST00000497010.1:n.261-18_261-15del
ENST00000620860.4:c.149-18_149-15del	ENSP00000483996.1:n.149-18_149-15del
NM_001166588.2:c.149-18_149-15del	NP_001160060.1:n.149-18_149-15del
NM_001261418.1:c.149-18_149-15del	NP_001248347.1:n.149-18_149-15del
NM_020365.4:c.149-18_149-15del	NP_065098.1:n.149-18_149-15del
XM_011542396.1:c.149-18_149-15del	XP_011540698.1:n.149-18_149-15del
XM_017002745.2:c.149-18_149-15del	XP_016858234.1:n.149-18_149-15del
XM_017002746.1:c.-306-18_-306-15del	XP_016858235.1:n.-306-18_-306-15del
XM_017002747.1:c.-306-18_-306-15del	XP_016858236.1:n.-306-18_-306-15del
NM_020365.5:c.149-18_149-15del MANE Select	NP_065098.1:n.149-18_149-15del
NM_001166588.3:c.149-18_149-15del	NP_001160060.1:n.149-18_149-15del
NM_001261418.2:c.149-18_149-15del	NP_001248347.1:n.149-18_149-15del