Canonical Allele Identifier: CA1425882626
Gene: EIF2B5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184137735_184137739delinsTCTGA , CM000665.2:g.184137735_184137739delinsTCTGA GRCh38
NC_000003.11:g.183855523_183855527delinsTCTGA , CM000665.1:g.183855523_183855527delinsTCTGA GRCh37
NC_000003.10:g.185338217_185338221delinsTCTGA NCBI36
NG_015826.1:g.7714_7718delinsTCTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000465218.3:n.459_463delinsTCTGA
ENST00000468748.7:n.419_423delinsTCTGA
ENST00000484154.2:n.1057_1061delinsTCTGA
ENST00000491008.6:n.1184_1188delinsTCTGA
ENST00000492226.2:n.433_437delinsTCTGA
ENST00000492773.6:c.168_172delinsTCTGA
ENST00000647636.1:c.436_440delinsTCTGA ENSP00000497505.1:p.Ser146=
ENST00000647909.1:c.436_440delinsTCTGA ENSP00000498164.1:p.Ser146=
ENST00000648145.1:c.204_208delinsTCTGA
ENST00000648189.1:c.186_190delinsTCTGA
ENST00000648256.1:c.385_389delinsTCTGA ENSP00000497356.1:p.Ser129=
ENST00000648314.1:c.436_440delinsTCTGA ENSP00000496920.1:p.Ser146=
ENST00000648599.1:c.436_440delinsTCTGA ENSP00000497159.1:p.Ser146=
ENST00000648630.1:c.430_434delinsTCTGA ENSP00000497887.1:p.Ser144=
ENST00000648682.1:c.436_440delinsTCTGA ENSP00000498185.1:p.Ser146=
ENST00000648882.1:c.*262_*266delinsTCTGA ENSP00000497603.1:n.*262_*266delinsTCTGA
ENST00000648890.1:c.436_440delinsTCTGA ENSP00000497503.1:p.Ser146=
ENST00000648915.2:c.436_440delinsTCTGA MANE Select ENSP00000497160.1:p.Ser146=
ENST00000649545.1:c.170_174delinsTCTGA
ENST00000649688.1:c.436_440delinsTCTGA ENSP00000497097.1:p.Ser146=
ENST00000649814.1:n.485_489delinsTCTGA
ENST00000650244.1:c.581_585delinsTCTGA ENSP00000497227.1:n.581_585delinsTCTGA
ENST00000650270.1:c.303_307delinsTCTGA
ENST00000273783.7:c.436_440delinsTCTGA ENSP00000273783.3:p.Ser146=
ENST00000432982.5:c.245+1060_245+1064delinsTCTGA
ENST00000444495.1:c.436_440delinsTCTGA ENSP00000409142.1:p.Ser146=
ENST00000481054.5:n.437_441delinsTCTGA
ENST00000491008.5:n.400_404delinsTCTGA
ENST00000491144.5:n.784_788delinsTCTGA
ENST00000498831.1:n.391_395delinsTCTGA
NM_003907.2:c.436_440delinsTCTGA NP_003898.2:p.Ser146=
XR_924208.1:n.1387_1391delinsTCTGA
NM_003907.3:c.436_440delinsTCTGA MANE Select NP_003898.2:p.Ser146=
XM_011513266.3:c.-466_-462delinsTCTGA XP_011511568.1:n.-466_-462delinsTCTGA
XR_001740352.2:n.799_803delinsTCTGA
XR_001740353.2:n.799_803delinsTCTGA
XR_924208.2:n.799_803delinsTCTGA