Canonical Allele Identifier: CA2538808066
Gene: EIF2B5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184138040_184138041insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC , CM000665.2:g.184138040_184138041insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC GRCh38
NC_000003.11:g.183855828_183855829insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC , CM000665.1:g.183855828_183855829insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC GRCh37
NC_000003.10:g.185338522_185338523insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC NCBI36
NG_015826.1:g.8019_8020insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000465218.3:n.672_673insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC
ENST00000468748.7:n.632_633insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC
ENST00000484154.2:n.1270_1271insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC
ENST00000491008.6:n.1397_1398insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC
ENST00000492226.2:n.646_647insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC
ENST00000492773.6:c.381_382insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC
ENST00000647636.1:c.649_650insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC ENSP00000497505.1:p.Lys217ThrfsTer29
ENST00000647909.1:c.673_674insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC ENSP00000498164.1:p.Lys225ThrfsTer29
ENST00000648145.1:c.417_418insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC
ENST00000648189.1:c.399_400insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC
ENST00000648256.1:c.598_599insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC ENSP00000497356.1:p.Lys200ThrfsTer29
ENST00000648314.1:c.649_650insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC ENSP00000496920.1:p.Lys217ThrfsTer29
ENST00000648599.1:c.649_650insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC ENSP00000497159.1:p.Lys217ThrfsTer29
ENST00000648630.1:c.643_644insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC ENSP00000497887.1:p.Lys215ThrfsTer29
ENST00000648682.1:c.649_650insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC ENSP00000498185.1:p.Lys217ThrfsTer29
ENST00000648882.1:c.*475_*476insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC ENSP00000497603.1:n.*475_*476insCGGCCTTTTTGTTCTTTACGGCTGATTTC...
ENST00000648890.1:c.649_650insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC ENSP00000497503.1:p.Lys217ThrfsTer29
ENST00000648915.2:c.649_650insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC MANE Select ENSP00000497160.1:p.Lys217ThrfsTer29
ENST00000649545.1:c.383_384insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC
ENST00000649688.1:c.649_650insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC ENSP00000497097.1:p.Lys217ThrfsTer29
ENST00000649814.1:n.698_699insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC
ENST00000650270.1:c.516_517insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC
ENST00000273783.7:c.649_650insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC ENSP00000273783.3:p.Lys217ThrfsTer29
ENST00000432982.5:c.245+1365_245+1366insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC
ENST00000444495.1:c.649_650insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC ENSP00000409142.1:p.Lys217ThrfsTer29
ENST00000468748.5:n.102_103insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC
ENST00000481054.5:n.650_651insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC
ENST00000491008.5:n.613_614insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC
ENST00000491144.5:n.1089_1090insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC
NM_003907.2:c.649_650insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC NP_003898.2:p.Lys217ThrfsTer29
XR_924208.1:n.1600_1601insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC
NM_003907.3:c.649_650insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC MANE Select NP_003898.2:p.Lys217ThrfsTer29
XM_011513266.3:c.-253_-252insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC XP_011511568.1:n.-253_-252insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGT...
XR_001740352.2:n.1012_1013insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC
XR_001740353.2:n.1012_1013insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC
XR_924208.2:n.1012_1013insCGGCCTTTTTGTTCTTTACGGCTGATTTCCGTCGCCTATCACCAAACCGAAACCGGCGTATCCGTTTGACGGGGGTTGGGCGGTAAAGCAGGACGGATAGGGCTGCTTAAGCGGCCCTTGCTGCGGC