Canonical Allele Identifier: CA2668796647

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184138138-TTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138139_184138140del , CM000665.2:g.184138139_184138140del	GRCh38
NC_000003.11:g.183855927_183855928del , CM000665.1:g.183855927_183855928del	GRCh37
NC_000003.10:g.185338621_185338622del	NCBI36
NG_015826.1:g.8118_8119del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.708-27_708-26del
ENST00000468748.7:n.668-27_668-26del
ENST00000484154.2:n.1306-27_1306-26del
ENST00000491008.6:n.1433-27_1433-26del
ENST00000492226.2:n.682-27_682-26del
ENST00000492773.6:c.417-5_417-4del
ENST00000647636.1:c.685-27_685-26del	ENSP00000497505.1:n.685-27_685-26del
ENST00000647909.1:c.709-27_709-26del	ENSP00000498164.1:n.709-27_709-26del
ENST00000648145.1:c.453-27_453-26del
ENST00000648189.1:c.435-27_435-26del
ENST00000648256.1:c.634-27_634-26del	ENSP00000497356.1:n.634-27_634-26del
ENST00000648314.1:c.685-27_685-26del	ENSP00000496920.1:n.685-27_685-26del
ENST00000648599.1:c.685-27_685-26del	ENSP00000497159.1:n.685-27_685-26del
ENST00000648630.1:c.679-27_679-26del	ENSP00000497887.1:n.679-27_679-26del
ENST00000648682.1:c.685-27_685-26del	ENSP00000498185.1:n.685-27_685-26del
ENST00000648882.1:c.*511-27_*511-26del	ENSP00000497603.1:n.*511-27_*511-26del
ENST00000648890.1:c.685-27_685-26del	ENSP00000497503.1:n.685-27_685-26del
ENST00000648915.2:c.685-27_685-26del MANE Select	ENSP00000497160.1:n.685-27_685-26del
ENST00000649545.1:c.419-27_419-26del
ENST00000649688.1:c.685-27_685-26del	ENSP00000497097.1:n.685-27_685-26del
ENST00000649814.1:n.734-27_734-26del
ENST00000650270.1:c.552-27_552-26del
ENST00000273783.7:c.685-27_685-26del	ENSP00000273783.3:n.685-27_685-26del
ENST00000432982.5:c.245+1464_245+1465del
ENST00000444495.1:c.685-27_685-26del	ENSP00000409142.1:n.685-27_685-26del
ENST00000468748.5:n.138-27_138-26del
ENST00000481054.5:n.686-27_686-26del
ENST00000491008.5:n.649-27_649-26del
ENST00000491144.5:n.1125-27_1125-26del
NM_003907.2:c.685-27_685-26del	NP_003898.2:n.685-27_685-26del
XR_924208.1:n.1636-27_1636-26del
NM_003907.3:c.685-27_685-26del MANE Select	NP_003898.2:n.685-27_685-26del
XM_011513266.3:c.-217-27_-217-26del	XP_011511568.1:n.-217-27_-217-26del
XR_001740352.2:n.1048-27_1048-26del
XR_001740353.2:n.1048-27_1048-26del
XR_924208.2:n.1048-27_1048-26del