Canonical Allele Identifier: CA903705215

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1365026091
• gnomAD v3: 3-184136952-CTT-C
• gnomAD v4: 3-184136952-CTT-C
• MyVariant Identifiers: chr3:g.183854741_183854742del (hg19) ; chr3:g.184136953_184136954del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136953_184136954del , CM000665.2:g.184136953_184136954del	GRCh38
NC_000003.11:g.183854741_183854742del , CM000665.1:g.183854741_183854742del	GRCh37
NC_000003.10:g.185337435_185337436del	NCBI36
NG_015826.1:g.6932_6933del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.*213_*214del	ENSP00000414775.1:n.*213_*214del
ENST00000465218.3:n.343+217_343+218del
ENST00000468748.7:n.303+217_303+218del
ENST00000471832.2:c.*531_*532del	ENSP00000497786.1:n.*531_*532del
ENST00000484154.2:n.275_276del
ENST00000491008.6:n.402_403del
ENST00000492226.2:n.317+217_317+218del
ENST00000492773.6:c.52+217_52+218del
ENST00000647636.1:c.320+217_320+218del	ENSP00000497505.1:n.320+217_320+218del
ENST00000647909.1:c.320+217_320+218del	ENSP00000498164.1:n.320+217_320+218del
ENST00000648145.1:c.88+217_88+218del
ENST00000648189.1:c.70+217_70+218del
ENST00000648256.1:c.269+217_269+218del	ENSP00000497356.1:n.269+217_269+218del
ENST00000648314.1:c.320+217_320+218del	ENSP00000496920.1:n.320+217_320+218del
ENST00000648599.1:c.320+217_320+218del	ENSP00000497159.1:n.320+217_320+218del
ENST00000648630.1:c.314+217_314+218del	ENSP00000497887.1:n.314+217_314+218del
ENST00000648682.1:c.320+217_320+218del	ENSP00000498185.1:n.320+217_320+218del
ENST00000648882.1:c.*146+217_*146+218del	ENSP00000497603.1:n.*146+217_*146+218del
ENST00000648890.1:c.320+217_320+218del	ENSP00000497503.1:n.320+217_320+218del
ENST00000648915.2:c.320+217_320+218del MANE Select	ENSP00000497160.1:n.320+217_320+218del
ENST00000649545.1:c.54+217_54+218del
ENST00000649688.1:c.320+217_320+218del	ENSP00000497097.1:n.320+217_320+218del
ENST00000649814.1:n.369+217_369+218del
ENST00000650244.1:c.465+217_465+218del	ENSP00000497227.1:n.465+217_465+218del
ENST00000650270.1:c.187+217_187+218del
ENST00000273783.7:c.320+217_320+218del	ENSP00000273783.3:n.320+217_320+218del
ENST00000432569.1:c.*213_*214del	ENSP00000414775.1:n.*213_*214del
ENST00000432982.5:c.245+278_245+279del
ENST00000444495.1:c.320+217_320+218del	ENSP00000409142.1:n.320+217_320+218del
ENST00000471832.1:n.468_469del
ENST00000481054.5:n.321+217_321+218del
ENST00000491144.5:n.668+217_668+218del
ENST00000498831.1:n.176+217_176+218del
NM_003907.2:c.320+217_320+218del	NP_003898.2:n.320+217_320+218del
XR_924208.1:n.1271+217_1271+218del
NM_003907.3:c.320+217_320+218del MANE Select	NP_003898.2:n.320+217_320+218del
XM_011513266.3:c.-582+217_-582+218del	XP_011511568.1:n.-582+217_-582+218del
XR_001740352.2:n.683+217_683+218del
XR_001740353.2:n.683+217_683+218del
XR_924208.2:n.683+217_683+218del