Canonical Allele Identifier: CA2668796645

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184138134-CAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138135_184138137del , CM000665.2:g.184138135_184138137del	GRCh38
NC_000003.11:g.183855923_183855925del , CM000665.1:g.183855923_183855925del	GRCh37
NC_000003.10:g.185338617_185338619del	NCBI36
NG_015826.1:g.8114_8116del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.708-31_708-29del
ENST00000468748.7:n.668-31_668-29del
ENST00000484154.2:n.1306-31_1306-29del
ENST00000491008.6:n.1433-31_1433-29del
ENST00000492226.2:n.682-31_682-29del
ENST00000492773.6:c.417-9_417-7del
ENST00000647636.1:c.685-31_685-29del	ENSP00000497505.1:n.685-31_685-29del
ENST00000647909.1:c.709-31_709-29del	ENSP00000498164.1:n.709-31_709-29del
ENST00000648145.1:c.453-31_453-29del
ENST00000648189.1:c.435-31_435-29del
ENST00000648256.1:c.634-31_634-29del	ENSP00000497356.1:n.634-31_634-29del
ENST00000648314.1:c.685-31_685-29del	ENSP00000496920.1:n.685-31_685-29del
ENST00000648599.1:c.685-31_685-29del	ENSP00000497159.1:n.685-31_685-29del
ENST00000648630.1:c.679-31_679-29del	ENSP00000497887.1:n.679-31_679-29del
ENST00000648682.1:c.685-31_685-29del	ENSP00000498185.1:n.685-31_685-29del
ENST00000648882.1:c.*511-31_*511-29del	ENSP00000497603.1:n.*511-31_*511-29del
ENST00000648890.1:c.685-31_685-29del	ENSP00000497503.1:n.685-31_685-29del
ENST00000648915.2:c.685-31_685-29del MANE Select	ENSP00000497160.1:n.685-31_685-29del
ENST00000649545.1:c.419-31_419-29del
ENST00000649688.1:c.685-31_685-29del	ENSP00000497097.1:n.685-31_685-29del
ENST00000649814.1:n.734-31_734-29del
ENST00000650270.1:c.552-31_552-29del
ENST00000273783.7:c.685-31_685-29del	ENSP00000273783.3:n.685-31_685-29del
ENST00000432982.5:c.245+1460_245+1462del
ENST00000444495.1:c.685-31_685-29del	ENSP00000409142.1:n.685-31_685-29del
ENST00000468748.5:n.138-31_138-29del
ENST00000481054.5:n.686-31_686-29del
ENST00000491008.5:n.649-31_649-29del
ENST00000491144.5:n.1125-31_1125-29del
NM_003907.2:c.685-31_685-29del	NP_003898.2:n.685-31_685-29del
XR_924208.1:n.1636-31_1636-29del
NM_003907.3:c.685-31_685-29del MANE Select	NP_003898.2:n.685-31_685-29del
XM_011513266.3:c.-217-31_-217-29del	XP_011511568.1:n.-217-31_-217-29del
XR_001740352.2:n.1048-31_1048-29del
XR_001740353.2:n.1048-31_1048-29del
XR_924208.2:n.1048-31_1048-29del