Canonical Allele Identifier: CA2554451434

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137822_184137823insGT , CM000665.2:g.184137822_184137823insGT	GRCh38
NC_000003.11:g.183855610_183855611insGT , CM000665.1:g.183855610_183855611insGT	GRCh37
NC_000003.10:g.185338304_185338305insGT	NCBI36
NG_015826.1:g.7801_7802insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.529+17_529+18insGT
ENST00000468748.7:n.489+17_489+18insGT
ENST00000484154.2:n.1127+17_1127+18insGT
ENST00000491008.6:n.1254+17_1254+18insGT
ENST00000492226.2:n.503+17_503+18insGT
ENST00000492773.6:c.238+17_238+18insGT
ENST00000647636.1:c.506+17_506+18insGT	ENSP00000497505.1:n.506+17_506+18insGT
ENST00000647909.1:c.506+17_506+18insGT	ENSP00000498164.1:n.506+17_506+18insGT
ENST00000648145.1:c.274+17_274+18insGT
ENST00000648189.1:c.256+17_256+18insGT
ENST00000648256.1:c.455+17_455+18insGT	ENSP00000497356.1:n.455+17_455+18insGT
ENST00000648314.1:c.506+17_506+18insGT	ENSP00000496920.1:n.506+17_506+18insGT
ENST00000648599.1:c.506+17_506+18insGT	ENSP00000497159.1:n.506+17_506+18insGT
ENST00000648630.1:c.500+17_500+18insGT	ENSP00000497887.1:n.500+17_500+18insGT
ENST00000648682.1:c.506+17_506+18insGT	ENSP00000498185.1:n.506+17_506+18insGT
ENST00000648882.1:c.*332+17_*332+18insGT	ENSP00000497603.1:n.*332+17_*332+18insGT
ENST00000648890.1:c.506+17_506+18insGT	ENSP00000497503.1:n.506+17_506+18insGT
ENST00000648915.2:c.506+17_506+18insGT MANE Select	ENSP00000497160.1:n.506+17_506+18insGT
ENST00000649545.1:c.240+17_240+18insGT
ENST00000649688.1:c.506+17_506+18insGT	ENSP00000497097.1:n.506+17_506+18insGT
ENST00000649814.1:n.555+17_555+18insGT
ENST00000650244.1:c.651+17_651+18insGT	ENSP00000497227.1:n.651+17_651+18insGT
ENST00000650270.1:c.373+17_373+18insGT
ENST00000273783.7:c.506+17_506+18insGT	ENSP00000273783.3:n.506+17_506+18insGT
ENST00000432982.5:c.245+1147_245+1148insGT
ENST00000444495.1:c.506+17_506+18insGT	ENSP00000409142.1:n.506+17_506+18insGT
ENST00000481054.5:n.507+17_507+18insGT
ENST00000491008.5:n.470+17_470+18insGT
ENST00000491144.5:n.871_872insGT
ENST00000498831.1:n.461+17_461+18insGT
NM_003907.2:c.506+17_506+18insGT	NP_003898.2:n.506+17_506+18insGT
XR_924208.1:n.1457+17_1457+18insGT
NM_003907.3:c.506+17_506+18insGT MANE Select	NP_003898.2:n.506+17_506+18insGT
XM_011513266.3:c.-396+17_-396+18insGT	XP_011511568.1:n.-396+17_-396+18insGT
XR_001740352.2:n.869+17_869+18insGT
XR_001740353.2:n.869+17_869+18insGT
XR_924208.2:n.869+17_869+18insGT