Canonical Allele Identifier: CA1425883096

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138125_184138126delinsTG , CM000665.2:g.184138125_184138126delinsTG	GRCh38
NC_000003.11:g.183855913_183855914delinsTG , CM000665.1:g.183855913_183855914delinsTG	GRCh37
NC_000003.10:g.185338607_185338608delinsTG	NCBI36
NG_015826.1:g.8104_8105delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.708-41_708-40delinsTG
ENST00000468748.7:n.668-41_668-40delinsTG
ENST00000484154.2:n.1306-41_1306-40delinsTG
ENST00000491008.6:n.1433-41_1433-40delinsTG
ENST00000492226.2:n.682-41_682-40delinsTG
ENST00000492773.6:c.417-19_417-18delinsTG
ENST00000647636.1:c.685-41_685-40delinsTG	ENSP00000497505.1:n.685-41_685-40delinsTG
ENST00000647909.1:c.709-41_709-40delinsTG	ENSP00000498164.1:n.709-41_709-40delinsTG
ENST00000648145.1:c.453-41_453-40delinsTG
ENST00000648189.1:c.435-41_435-40delinsTG
ENST00000648256.1:c.634-41_634-40delinsTG	ENSP00000497356.1:n.634-41_634-40delinsTG
ENST00000648314.1:c.685-41_685-40delinsTG	ENSP00000496920.1:n.685-41_685-40delinsTG
ENST00000648599.1:c.685-41_685-40delinsTG	ENSP00000497159.1:n.685-41_685-40delinsTG
ENST00000648630.1:c.679-41_679-40delinsTG	ENSP00000497887.1:n.679-41_679-40delinsTG
ENST00000648682.1:c.685-41_685-40delinsTG	ENSP00000498185.1:n.685-41_685-40delinsTG
ENST00000648882.1:c.*511-41_*511-40delinsTG	ENSP00000497603.1:n.*511-41_*511-40delinsTG
ENST00000648890.1:c.685-41_685-40delinsTG	ENSP00000497503.1:n.685-41_685-40delinsTG
ENST00000648915.2:c.685-41_685-40delinsTG MANE Select	ENSP00000497160.1:n.685-41_685-40delinsTG
ENST00000649545.1:c.419-41_419-40delinsTG
ENST00000649688.1:c.685-41_685-40delinsTG	ENSP00000497097.1:n.685-41_685-40delinsTG
ENST00000649814.1:n.734-41_734-40delinsTG
ENST00000650270.1:c.552-41_552-40delinsTG
ENST00000273783.7:c.685-41_685-40delinsTG	ENSP00000273783.3:n.685-41_685-40delinsTG
ENST00000432982.5:c.245+1450_245+1451delinsTG
ENST00000444495.1:c.685-41_685-40delinsTG	ENSP00000409142.1:n.685-41_685-40delinsTG
ENST00000468748.5:n.138-41_138-40delinsTG
ENST00000481054.5:n.686-41_686-40delinsTG
ENST00000491008.5:n.649-41_649-40delinsTG
ENST00000491144.5:n.1125-41_1125-40delinsTG
NM_003907.2:c.685-41_685-40delinsTG	NP_003898.2:n.685-41_685-40delinsTG
XR_924208.1:n.1636-41_1636-40delinsTG
NM_003907.3:c.685-41_685-40delinsTG MANE Select	NP_003898.2:n.685-41_685-40delinsTG
XM_011513266.3:c.-217-41_-217-40delinsTG	XP_011511568.1:n.-217-41_-217-40delinsTG
XR_001740352.2:n.1048-41_1048-40delinsTG
XR_001740353.2:n.1048-41_1048-40delinsTG
XR_924208.2:n.1048-41_1048-40delinsTG