Canonical Allele Identifier: CA548394569

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1373794842
• gnomAD v2: 3-183854574-T-TAA
• MyVariant Identifiers: chr3:g.183854574_183854575insAA (hg19) ; chr3:g.184136786_184136787insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136786_184136787insAA , CM000665.2:g.184136786_184136787insAA	GRCh38
NC_000003.11:g.183854574_183854575insAA , CM000665.1:g.183854574_183854575insAA	GRCh37
NC_000003.10:g.185337268_185337269insAA	NCBI36
NG_015826.1:g.6765_6766insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.*46_*47insAA	ENSP00000414775.1:n.*46_*47insAA
ENST00000465218.3:n.343+50_343+51insAA
ENST00000468748.7:n.303+50_303+51insAA
ENST00000471832.2:c.*364_*365insAA	ENSP00000497786.1:n.*364_*365insAA
ENST00000484154.2:n.108_109insAA
ENST00000491008.6:n.235_236insAA
ENST00000492226.2:n.317+50_317+51insAA
ENST00000492773.6:c.52+50_52+51insAA
ENST00000647636.1:c.320+50_320+51insAA	ENSP00000497505.1:n.320+50_320+51insAA
ENST00000647909.1:c.320+50_320+51insAA	ENSP00000498164.1:n.320+50_320+51insAA
ENST00000648145.1:c.88+50_88+51insAA
ENST00000648189.1:c.70+50_70+51insAA
ENST00000648256.1:c.269+50_269+51insAA	ENSP00000497356.1:n.269+50_269+51insAA
ENST00000648314.1:c.320+50_320+51insAA	ENSP00000496920.1:n.320+50_320+51insAA
ENST00000648599.1:c.320+50_320+51insAA	ENSP00000497159.1:n.320+50_320+51insAA
ENST00000648630.1:c.314+50_314+51insAA	ENSP00000497887.1:n.314+50_314+51insAA
ENST00000648682.1:c.320+50_320+51insAA	ENSP00000498185.1:n.320+50_320+51insAA
ENST00000648882.1:c.*146+50_*146+51insAA	ENSP00000497603.1:n.*146+50_*146+51insAA
ENST00000648890.1:c.320+50_320+51insAA	ENSP00000497503.1:n.320+50_320+51insAA
ENST00000648915.2:c.320+50_320+51insAA MANE Select	ENSP00000497160.1:n.320+50_320+51insAA
ENST00000649545.1:c.54+50_54+51insAA
ENST00000649688.1:c.320+50_320+51insAA	ENSP00000497097.1:n.320+50_320+51insAA
ENST00000649814.1:n.369+50_369+51insAA
ENST00000650244.1:c.465+50_465+51insAA	ENSP00000497227.1:n.465+50_465+51insAA
ENST00000650270.1:c.187+50_187+51insAA
ENST00000273783.7:c.320+50_320+51insAA	ENSP00000273783.3:n.320+50_320+51insAA
ENST00000432569.1:c.*46_*47insAA	ENSP00000414775.1:n.*46_*47insAA
ENST00000432982.5:c.245+111_245+112insAA
ENST00000444495.1:c.320+50_320+51insAA	ENSP00000409142.1:n.320+50_320+51insAA
ENST00000471832.1:n.301_302insAA
ENST00000481054.5:n.321+50_321+51insAA
ENST00000491144.5:n.668+50_668+51insAA
ENST00000498831.1:n.176+50_176+51insAA
NM_003907.2:c.320+50_320+51insAA	NP_003898.2:n.320+50_320+51insAA
XR_924208.1:n.1271+50_1271+51insAA
NM_003907.3:c.320+50_320+51insAA MANE Select	NP_003898.2:n.320+50_320+51insAA
XM_011513266.3:c.-582+50_-582+51insAA	XP_011511568.1:n.-582+50_-582+51insAA
XR_001740352.2:n.683+50_683+51insAA
XR_001740353.2:n.683+50_683+51insAA
XR_924208.2:n.683+50_683+51insAA