Canonical Allele Identifier: CA2580616017

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 1994086
• ClinVar RCV Id: RCV002806599

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137649_184137650del , CM000665.2:g.184137649_184137650del	GRCh38
NC_000003.11:g.183855437_183855438del , CM000665.1:g.183855437_183855438del	GRCh37
NC_000003.10:g.185338131_185338132del	NCBI36
NG_015826.1:g.7628_7629del

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.373_374del
ENST00000468748.7:n.333_334del
ENST00000484154.2:n.971_972del
ENST00000491008.6:n.1098_1099del
ENST00000492226.2:n.347_348del
ENST00000492773.6:c.82_83del
ENST00000647636.1:c.350_351del	ENSP00000497505.1:p.Leu117GlnfsTer20
ENST00000647909.1:c.350_351del	ENSP00000498164.1:p.Leu117GlnfsTer20
ENST00000648145.1:c.118_119del
ENST00000648189.1:c.100_101del
ENST00000648256.1:c.299_300del	ENSP00000497356.1:p.Leu100GlnfsTer20
ENST00000648314.1:c.350_351del	ENSP00000496920.1:p.Leu117GlnfsTer20
ENST00000648599.1:c.350_351del	ENSP00000497159.1:p.Leu117GlnfsTer20
ENST00000648630.1:c.344_345del	ENSP00000497887.1:p.Leu115GlnfsTer20
ENST00000648682.1:c.350_351del	ENSP00000498185.1:p.Leu117GlnfsTer20
ENST00000648882.1:c.*176_*177del	ENSP00000497603.1:n.*176_*177del
ENST00000648890.1:c.350_351del	ENSP00000497503.1:p.Leu117GlnfsTer20
ENST00000648915.2:c.350_351del MANE Select	ENSP00000497160.1:p.Leu117GlnfsTer20
ENST00000649545.1:c.84_85del
ENST00000649688.1:c.350_351del	ENSP00000497097.1:p.Leu117GlnfsTer20
ENST00000649814.1:n.399_400del
ENST00000650244.1:c.495_496del	ENSP00000497227.1:n.495_496del
ENST00000650270.1:c.217_218del
ENST00000273783.7:c.350_351del	ENSP00000273783.3:p.Leu117GlnfsTer20
ENST00000432982.5:c.245+974_245+975del
ENST00000444495.1:c.350_351del	ENSP00000409142.1:p.Leu117GlnfsTer20
ENST00000481054.5:n.351_352del
ENST00000491008.5:n.314_315del
ENST00000491144.5:n.698_699del
ENST00000498831.1:n.305_306del
NM_003907.2:c.350_351del	NP_003898.2:p.Leu117GlnfsTer20
XR_924208.1:n.1301_1302del
NM_003907.3:c.350_351del MANE Select	NP_003898.2:p.Leu117GlnfsTer20
XM_011513266.3:c.-552_-551del	XP_011511568.1:n.-552_-551del
XR_001740352.2:n.713_714del
XR_001740353.2:n.713_714del
XR_924208.2:n.713_714del