Canonical Allele Identifier: CA2668799061

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184142177-CATT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184142180_184142182del , CM000665.2:g.184142180_184142182del	GRCh38
NC_000003.11:g.183859968_183859970del , CM000665.1:g.183859968_183859970del	GRCh37
NC_000003.10:g.185342662_185342664del	NCBI36
NG_015826.1:g.12159_12161del

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.1326-57_1326-55del
ENST00000468748.7:n.1546-57_1546-55del
ENST00000484154.2:n.1533-57_1533-55del
ENST00000491008.6:n.2051-57_2051-55del
ENST00000492226.2:n.1570-57_1570-55del
ENST00000492773.6:c.1057-57_1057-55del
ENST00000647636.1:c.*152-57_*152-55del	ENSP00000497505.1:n.*152-57_*152-55del
ENST00000647909.1:c.1327-57_1327-55del	ENSP00000498164.1:n.1327-57_1327-55del
ENST00000648145.1:c.1075-57_1075-55del
ENST00000648189.1:c.1121-57_1121-55del
ENST00000648256.1:c.1275-57_1275-55del	ENSP00000497356.1:n.1275-57_1275-55del
ENST00000648314.1:c.*422-57_*422-55del	ENSP00000496920.1:n.*422-57_*422-55del
ENST00000648599.1:c.*586-57_*586-55del	ENSP00000497159.1:n.*586-57_*586-55del
ENST00000648630.1:c.1182-57_1182-55del	ENSP00000497887.1:n.1182-57_1182-55del
ENST00000648682.1:c.*143-57_*143-55del	ENSP00000498185.1:n.*143-57_*143-55del
ENST00000648882.1:c.*1129-57_*1129-55del	ENSP00000497603.1:n.*1129-57_*1129-55del
ENST00000648890.1:c.1303-57_1303-55del	ENSP00000497503.1:n.1303-57_1303-55del
ENST00000648915.2:c.1303-57_1303-55del MANE Select	ENSP00000497160.1:n.1303-57_1303-55del
ENST00000649545.1:c.723+110_723+112del
ENST00000649688.1:c.*596-57_*596-55del	ENSP00000497097.1:n.*596-57_*596-55del
ENST00000649814.1:n.1352-57_1352-55del
ENST00000650270.1:c.1170-57_1170-55del
ENST00000273783.7:c.1303-57_1303-55del	ENSP00000273783.3:n.1303-57_1303-55del
ENST00000432982.5:c.246-57_246-55del
ENST00000444495.1:c.1303-57_1303-55del	ENSP00000409142.1:n.1303-57_1303-55del
ENST00000479250.1:n.73_75del
ENST00000481054.5:n.1397-57_1397-55del
ENST00000491144.5:n.1807-57_1807-55del
ENST00000492773.5:n.186-57_186-55del
NM_003907.2:c.1303-57_1303-55del	NP_003898.2:n.1303-57_1303-55del
XM_011513265.1:c.553-57_553-55del	XP_011511567.1:n.553-57_553-55del
XM_011513266.1:c.466-57_466-55del	XP_011511568.1:n.466-57_466-55del
XR_924208.1:n.2254-57_2254-55del
NM_003907.3:c.1303-57_1303-55del MANE Select	NP_003898.2:n.1303-57_1303-55del
XM_011513266.3:c.466-57_466-55del	XP_011511568.1:n.466-57_466-55del
XR_001740352.2:n.1666-57_1666-55del
XR_001740353.2:n.1666-57_1666-55del
XR_924208.2:n.1666-57_1666-55del