Canonical Allele Identifier: CA2506443117

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137837_184137838insTGG , CM000665.2:g.184137837_184137838insTGG	GRCh38
NC_000003.11:g.183855625_183855626insTGG , CM000665.1:g.183855625_183855626insTGG	GRCh37
NC_000003.10:g.185338319_185338320insTGG	NCBI36
NG_015826.1:g.7816_7817insTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.529+32_529+33insTGG
ENST00000468748.7:n.489+32_489+33insTGG
ENST00000484154.2:n.1127+32_1127+33insTGG
ENST00000491008.6:n.1254+32_1254+33insTGG
ENST00000492226.2:n.503+32_503+33insTGG
ENST00000492773.6:c.238+32_238+33insTGG
ENST00000647636.1:c.506+32_506+33insTGG	ENSP00000497505.1:n.506+32_506+33insTGG
ENST00000647909.1:c.506+32_506+33insTGG	ENSP00000498164.1:n.506+32_506+33insTGG
ENST00000648145.1:c.274+32_274+33insTGG
ENST00000648189.1:c.256+32_256+33insTGG
ENST00000648256.1:c.455+32_455+33insTGG	ENSP00000497356.1:n.455+32_455+33insTGG
ENST00000648314.1:c.506+32_506+33insTGG	ENSP00000496920.1:n.506+32_506+33insTGG
ENST00000648599.1:c.506+32_506+33insTGG	ENSP00000497159.1:n.506+32_506+33insTGG
ENST00000648630.1:c.500+32_500+33insTGG	ENSP00000497887.1:n.500+32_500+33insTGG
ENST00000648682.1:c.506+32_506+33insTGG	ENSP00000498185.1:n.506+32_506+33insTGG
ENST00000648882.1:c.*332+32_*332+33insTGG	ENSP00000497603.1:n.*332+32_*332+33insTGG
ENST00000648890.1:c.506+32_506+33insTGG	ENSP00000497503.1:n.506+32_506+33insTGG
ENST00000648915.2:c.506+32_506+33insTGG MANE Select	ENSP00000497160.1:n.506+32_506+33insTGG
ENST00000649545.1:c.240+32_240+33insTGG
ENST00000649688.1:c.506+32_506+33insTGG	ENSP00000497097.1:n.506+32_506+33insTGG
ENST00000649814.1:n.555+32_555+33insTGG
ENST00000650244.1:c.651+32_651+33insTGG	ENSP00000497227.1:n.651+32_651+33insTGG
ENST00000650270.1:c.373+32_373+33insTGG
ENST00000273783.7:c.506+32_506+33insTGG	ENSP00000273783.3:n.506+32_506+33insTGG
ENST00000432982.5:c.245+1162_245+1163insTGG
ENST00000444495.1:c.506+32_506+33insTGG	ENSP00000409142.1:n.506+32_506+33insTGG
ENST00000481054.5:n.507+32_507+33insTGG
ENST00000491008.5:n.470+32_470+33insTGG
ENST00000491144.5:n.886_887insTGG
ENST00000498831.1:n.461+32_461+33insTGG
NM_003907.2:c.506+32_506+33insTGG	NP_003898.2:n.506+32_506+33insTGG
XR_924208.1:n.1457+32_1457+33insTGG
NM_003907.3:c.506+32_506+33insTGG MANE Select	NP_003898.2:n.506+32_506+33insTGG
XM_011513266.3:c.-396+32_-396+33insTGG	XP_011511568.1:n.-396+32_-396+33insTGG
XR_001740352.2:n.869+32_869+33insTGG
XR_001740353.2:n.869+32_869+33insTGG
XR_924208.2:n.869+32_869+33insTGG