Canonical Allele Identifier: CA1425879788
Gene: EIF2B5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184135351_184135352delinsCT , CM000665.2:g.184135351_184135352delinsCT GRCh38
NC_000003.11:g.183853139_183853140delinsCT , CM000665.1:g.183853139_183853140delinsCT GRCh37
NC_000003.10:g.185335833_185335834delinsCT NCBI36
NG_015826.1:g.5330_5331delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000649814.1:n.15_16delinsCT
ENST00000273783.7:c.-35_-34delinsCT ENSP00000273783.3:n.-35_-34delinsCT
ENST00000491144.5:n.314_315delinsCT
NM_003907.2:c.-35_-34delinsCT NP_003898.2:n.-35_-34delinsCT
XR_924208.1:n.917_918delinsCT
XR_001740352.2:n.329_330delinsCT
XR_001740353.2:n.329_330delinsCT
XR_924208.2:n.329_330delinsCT