Canonical Allele Identifier: CA2580070482

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 1993243
• ClinVar RCV Id: RCV002801251

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137786_184137791del , CM000665.2:g.184137786_184137791del	GRCh38
NC_000003.11:g.183855574_183855579del , CM000665.1:g.183855574_183855579del	GRCh37
NC_000003.10:g.185338268_185338273del	NCBI36
NG_015826.1:g.7765_7770del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.510_515del
ENST00000468748.7:n.470_475del
ENST00000484154.2:n.1108_1113del
ENST00000491008.6:n.1235_1240del
ENST00000492226.2:n.484_489del
ENST00000492773.6:c.219_224del
ENST00000647636.1:c.487_492del	ENSP00000497505.1:p.Arg163_Ala164del
ENST00000647909.1:c.487_492del	ENSP00000498164.1:p.Arg163_Ala164del
ENST00000648145.1:c.255_260del
ENST00000648189.1:c.237_242del
ENST00000648256.1:c.436_441del	ENSP00000497356.1:p.Arg146_Ala147del
ENST00000648314.1:c.487_492del	ENSP00000496920.1:p.Arg163_Ala164del
ENST00000648599.1:c.487_492del	ENSP00000497159.1:p.Arg163_Ala164del
ENST00000648630.1:c.481_486del	ENSP00000497887.1:p.Arg161_Ala162del
ENST00000648682.1:c.487_492del	ENSP00000498185.1:p.Arg163_Ala164del
ENST00000648882.1:c.*313_*318del	ENSP00000497603.1:n.*313_*318del
ENST00000648890.1:c.487_492del	ENSP00000497503.1:p.Arg163_Ala164del
ENST00000648915.2:c.487_492del MANE Select	ENSP00000497160.1:p.Arg163_Ala164del
ENST00000649545.1:c.221_226del
ENST00000649688.1:c.487_492del	ENSP00000497097.1:p.Arg163_Ala164del
ENST00000649814.1:n.536_541del
ENST00000650244.1:c.632_637del	ENSP00000497227.1:n.632_637del
ENST00000650270.1:c.354_359del
ENST00000273783.7:c.487_492del	ENSP00000273783.3:p.Arg163_Ala164del
ENST00000432982.5:c.245+1111_245+1116del
ENST00000444495.1:c.487_492del	ENSP00000409142.1:p.Arg163_Ala164del
ENST00000481054.5:n.488_493del
ENST00000491008.5:n.451_456del
ENST00000491144.5:n.835_840del
ENST00000498831.1:n.442_447del
NM_003907.2:c.487_492del	NP_003898.2:p.Arg163_Ala164del
XR_924208.1:n.1438_1443del
NM_003907.3:c.487_492del MANE Select	NP_003898.2:p.Arg163_Ala164del
XM_011513266.3:c.-415_-410del	XP_011511568.1:n.-415_-410del
XR_001740352.2:n.850_855del
XR_001740353.2:n.850_855del
XR_924208.2:n.850_855del