Canonical Allele Identifier: CA21761365

Gene: EIF2B3

Linked Data

• dbSNP Id: rs948909453
• gnomAD v4: 1-44978252-TG-T
• MyVariant Identifiers: chr1:g.45443925del (hg19) ; chr1:g.44978253del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.44978255del , CM000663.2:g.44978255del	GRCh38
NC_000001.10:g.45443927del , CM000663.1:g.45443927del	GRCh37
NC_000001.9:g.45216514del	NCBI36
NG_015864.1:g.13437del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360403.7:c.294+62del MANE Select	ENSP00000353575.2:n.294+62del
ENST00000360403.6:c.294+62del	ENSP00000353575.2:n.294+62del
ENST00000372182.6:n.407+62del
ENST00000372183.7:c.294+62del	ENSP00000361257.3:n.294+62del
ENST00000477953.5:n.397+62del
ENST00000480675.5:c.294+62del	ENSP00000485842.1:n.294+62del
ENST00000487532.5:n.406+62del
ENST00000497010.1:n.406+62del
ENST00000620860.4:c.294+62del	ENSP00000483996.1:n.294+62del
NM_001166588.2:c.294+62del	NP_001160060.1:n.294+62del
NM_001261418.1:c.294+62del	NP_001248347.1:n.294+62del
NM_020365.4:c.294+62del	NP_065098.1:n.294+62del
XM_011542396.1:c.294+62del	XP_011540698.1:n.294+62del
XM_017002745.2:c.294+62del	XP_016858234.1:n.294+62del
XM_017002746.1:c.-161+62del	XP_016858235.1:n.-161+62del
XM_017002747.1:c.-161+62del	XP_016858236.1:n.-161+62del
NM_020365.5:c.294+62del MANE Select	NP_065098.1:n.294+62del
NM_001166588.3:c.294+62del	NP_001160060.1:n.294+62del
NM_001261418.2:c.294+62del	NP_001248347.1:n.294+62del