Canonical Allele Identifier: CA2545515364

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137840_184137842del , CM000665.2:g.184137840_184137842del	GRCh38
NC_000003.11:g.183855628_183855630del , CM000665.1:g.183855628_183855630del	GRCh37
NC_000003.10:g.185338322_185338324del	NCBI36
NG_015826.1:g.7819_7821del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.529+35_529+37del
ENST00000468748.7:n.489+35_489+37del
ENST00000484154.2:n.1127+35_1127+37del
ENST00000491008.6:n.1254+35_1254+37del
ENST00000492226.2:n.503+35_503+37del
ENST00000492773.6:c.238+35_238+37del
ENST00000647636.1:c.506+35_506+37del	ENSP00000497505.1:n.506+35_506+37del
ENST00000647909.1:c.507-34_507-32del	ENSP00000498164.1:n.507-34_507-32del
ENST00000648145.1:c.274+35_274+37del
ENST00000648189.1:c.256+35_256+37del
ENST00000648256.1:c.455+35_455+37del	ENSP00000497356.1:n.455+35_455+37del
ENST00000648314.1:c.506+35_506+37del	ENSP00000496920.1:n.506+35_506+37del
ENST00000648599.1:c.506+35_506+37del	ENSP00000497159.1:n.506+35_506+37del
ENST00000648630.1:c.500+35_500+37del	ENSP00000497887.1:n.500+35_500+37del
ENST00000648682.1:c.506+35_506+37del	ENSP00000498185.1:n.506+35_506+37del
ENST00000648882.1:c.*332+35_*332+37del	ENSP00000497603.1:n.*332+35_*332+37del
ENST00000648890.1:c.506+35_506+37del	ENSP00000497503.1:n.506+35_506+37del
ENST00000648915.2:c.506+35_506+37del MANE Select	ENSP00000497160.1:n.506+35_506+37del
ENST00000649545.1:c.240+35_240+37del
ENST00000649688.1:c.506+35_506+37del	ENSP00000497097.1:n.506+35_506+37del
ENST00000649814.1:n.555+35_555+37del
ENST00000650244.1:c.651+35_651+37del	ENSP00000497227.1:n.651+35_651+37del
ENST00000650270.1:c.373+35_373+37del
ENST00000273783.7:c.506+35_506+37del	ENSP00000273783.3:n.506+35_506+37del
ENST00000432982.5:c.245+1165_245+1167del
ENST00000444495.1:c.506+35_506+37del	ENSP00000409142.1:n.506+35_506+37del
ENST00000481054.5:n.507+35_507+37del
ENST00000491008.5:n.470+35_470+37del
ENST00000491144.5:n.889_891del
ENST00000498831.1:n.461+35_461+37del
NM_003907.2:c.506+35_506+37del	NP_003898.2:n.506+35_506+37del
XR_924208.1:n.1457+35_1457+37del
NM_003907.3:c.506+35_506+37del MANE Select	NP_003898.2:n.506+35_506+37del
XM_011513266.3:c.-396+35_-396+37del	XP_011511568.1:n.-396+35_-396+37del
XR_001740352.2:n.869+35_869+37del
XR_001740353.2:n.869+35_869+37del
XR_924208.2:n.869+35_869+37del