Canonical Allele Identifier: CA1425887605

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142283_184142285delinsCTT , CM000665.2:g.184142283_184142285delinsCTT	GRCh38
NC_000003.11:g.183860071_183860073delinsCTT , CM000665.1:g.183860071_183860073delinsCTT	GRCh37
NC_000003.10:g.185342765_185342767delinsCTT	NCBI36
NG_015826.1:g.12262_12264delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1372_1374delinsCTT
ENST00000468748.7:n.1592_1594delinsCTT
ENST00000484154.2:n.1579_1581delinsCTT
ENST00000491008.6:n.2097_2099delinsCTT
ENST00000492226.2:n.1616_1618delinsCTT
ENST00000492773.6:c.1103_1105delinsCTT
ENST00000647636.1:c.*198_*200delinsCTT	ENSP00000497505.1:n.*198_*200delinsCTT
ENST00000647909.1:c.1373_1375delinsCTT	ENSP00000498164.1:p.Ser458=
ENST00000648145.1:c.1121_1123delinsCTT
ENST00000648189.1:c.1167_1169delinsCTT
ENST00000648256.1:c.1321_1323delinsCTT	ENSP00000497356.1:n.1321_1323delinsCTT
ENST00000648314.1:c.*468_*470delinsCTT	ENSP00000496920.1:n.*468_*470delinsCTT
ENST00000648599.1:c.*632_*634delinsCTT	ENSP00000497159.1:n.*632_*634delinsCTT
ENST00000648630.1:c.1228_1230delinsCTT	ENSP00000497887.1:n.1228_1230delinsCTT
ENST00000648682.1:c.*189_*191delinsCTT	ENSP00000498185.1:n.*189_*191delinsCTT
ENST00000648882.1:c.*1175_*1177delinsCTT	ENSP00000497603.1:n.*1175_*1177delinsCTT
ENST00000648890.1:c.1349_1351delinsCTT	ENSP00000497503.1:p.Ser450=
ENST00000648915.2:c.1349_1351delinsCTT MANE Select	ENSP00000497160.1:p.Ser450=
ENST00000649545.1:c.724-15_724-13delinsCTT
ENST00000649688.1:c.*642_*644delinsCTT	ENSP00000497097.1:n.*642_*644delinsCTT
ENST00000649814.1:n.1398_1400delinsCTT
ENST00000650270.1:c.1216_1218delinsCTT
ENST00000273783.7:c.1349_1351delinsCTT	ENSP00000273783.3:p.Ser450=
ENST00000432982.5:c.292_294delinsCTT
ENST00000444495.1:c.1349_1351delinsCTT	ENSP00000409142.1:p.Ser450=
ENST00000479250.1:n.176_178delinsCTT
ENST00000481054.5:n.1443_1445delinsCTT
ENST00000491144.5:n.1853_1855delinsCTT
ENST00000492773.5:n.232_234delinsCTT
NM_003907.2:c.1349_1351delinsCTT	NP_003898.2:p.Ser450=
XM_011513265.1:c.599_601delinsCTT	XP_011511567.1:p.Ser200=
XM_011513266.1:c.512_514delinsCTT	XP_011511568.1:p.Ser171=
XR_924208.1:n.2300_2302delinsCTT
NM_003907.3:c.1349_1351delinsCTT MANE Select	NP_003898.2:p.Ser450=
XM_011513266.3:c.512_514delinsCTT	XP_011511568.1:p.Ser171=
XR_001740352.2:n.1712_1714delinsCTT
XR_001740353.2:n.1712_1714delinsCTT
XR_924208.2:n.1712_1714delinsCTT