Canonical Allele Identifier: CA2668797659

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184140021-C-CAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140033_184140037dup , CM000665.2:g.184140033_184140037dup	GRCh38
NC_000003.11:g.183857821_183857825dup , CM000665.1:g.183857821_183857825dup	GRCh37
NC_000003.10:g.185340515_185340519dup	NCBI36
NG_015826.1:g.10012_10016dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.789-47_789-43dup
ENST00000468748.7:n.749-47_749-43dup
ENST00000484154.2:n.1386+1787_1386+1791dup
ENST00000491008.6:n.1514-47_1514-43dup
ENST00000492226.2:n.763-47_763-43dup
ENST00000492773.6:c.520-47_520-43dup
ENST00000647636.1:c.766-47_766-43dup	ENSP00000497505.1:n.766-47_766-43dup
ENST00000647909.1:c.790-47_790-43dup	ENSP00000498164.1:n.790-47_790-43dup
ENST00000648145.1:c.534-47_534-43dup
ENST00000648189.1:c.516-47_516-43dup
ENST00000648256.1:c.715-24_715-20dup	ENSP00000497356.1:n.715-24_715-20dup
ENST00000648314.1:c.766-47_766-43dup	ENSP00000496920.1:n.766-47_766-43dup
ENST00000648599.1:c.*49-47_*49-43dup	ENSP00000497159.1:n.*49-47_*49-43dup
ENST00000648630.1:c.760-47_760-43dup	ENSP00000497887.1:n.760-47_760-43dup
ENST00000648682.1:c.766-47_766-43dup	ENSP00000498185.1:n.766-47_766-43dup
ENST00000648882.1:c.*592-47_*592-43dup	ENSP00000497603.1:n.*592-47_*592-43dup
ENST00000648890.1:c.766-47_766-43dup	ENSP00000497503.1:n.766-47_766-43dup
ENST00000648915.2:c.766-47_766-43dup MANE Select	ENSP00000497160.1:n.766-47_766-43dup
ENST00000649545.1:c.500-47_500-43dup
ENST00000649688.1:c.*49-47_*49-43dup	ENSP00000497097.1:n.*49-47_*49-43dup
ENST00000649814.1:n.815-47_815-43dup
ENST00000650270.1:c.633-47_633-43dup
ENST00000273783.7:c.766-47_766-43dup	ENSP00000273783.3:n.766-47_766-43dup
ENST00000432982.5:c.246-2204_246-2200dup
ENST00000444495.1:c.766-47_766-43dup	ENSP00000409142.1:n.766-47_766-43dup
ENST00000468748.5:n.219-47_219-43dup
ENST00000479833.1:n.82-47_82-43dup
ENST00000481054.5:n.860-47_860-43dup
ENST00000491008.5:n.730-47_730-43dup
ENST00000491144.5:n.1206-47_1206-43dup
NM_003907.2:c.766-47_766-43dup	NP_003898.2:n.766-47_766-43dup
XM_011513265.1:c.16-47_16-43dup	XP_011511567.1:n.16-47_16-43dup
XR_924208.1:n.1717-47_1717-43dup
NM_003907.3:c.766-47_766-43dup MANE Select	NP_003898.2:n.766-47_766-43dup
XM_011513266.3:c.-136-47_-136-43dup	XP_011511568.1:n.-136-47_-136-43dup
XR_001740352.2:n.1129-47_1129-43dup
XR_001740353.2:n.1129-47_1129-43dup
XR_924208.2:n.1129-47_1129-43dup