Canonical Allele Identifier: CA548394558

Gene: EIF2B5

Linked Data

• gnomAD v2: 3-183854568-C-CCAAA
• MyVariant Identifiers: chr3:g.183854568_183854569insCAAA (hg19) ; chr3:g.184136780_184136781insCAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136782_184136783insAACA , CM000665.2:g.184136782_184136783insAACA	GRCh38
NC_000003.11:g.183854570_183854571insAACA , CM000665.1:g.183854570_183854571insAACA	GRCh37
NC_000003.10:g.185337264_185337265insAACA	NCBI36
NG_015826.1:g.6761_6762insAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.*42_*43insAACA	ENSP00000414775.1:n.*42_*43insAACA
ENST00000465218.3:n.343+46_343+47insAACA
ENST00000468748.7:n.303+46_303+47insAACA
ENST00000471832.2:c.*360_*361insAACA	ENSP00000497786.1:n.*360_*361insAACA
ENST00000484154.2:n.104_105insAACA
ENST00000491008.6:n.231_232insAACA
ENST00000492226.2:n.317+46_317+47insAACA
ENST00000492773.6:c.52+46_52+47insAACA
ENST00000647636.1:c.320+46_320+47insAACA	ENSP00000497505.1:n.320+46_320+47insAACA
ENST00000647909.1:c.320+46_320+47insAACA	ENSP00000498164.1:n.320+46_320+47insAACA
ENST00000648145.1:c.88+46_88+47insAACA
ENST00000648189.1:c.70+46_70+47insAACA
ENST00000648256.1:c.269+46_269+47insAACA	ENSP00000497356.1:n.269+46_269+47insAACA
ENST00000648314.1:c.320+46_320+47insAACA	ENSP00000496920.1:n.320+46_320+47insAACA
ENST00000648599.1:c.320+46_320+47insAACA	ENSP00000497159.1:n.320+46_320+47insAACA
ENST00000648630.1:c.314+46_314+47insAACA	ENSP00000497887.1:n.314+46_314+47insAACA
ENST00000648682.1:c.320+46_320+47insAACA	ENSP00000498185.1:n.320+46_320+47insAACA
ENST00000648882.1:c.*146+46_*146+47insAACA	ENSP00000497603.1:n.*146+46_*146+47insAACA
ENST00000648890.1:c.320+46_320+47insAACA	ENSP00000497503.1:n.320+46_320+47insAACA
ENST00000648915.2:c.320+46_320+47insAACA MANE Select	ENSP00000497160.1:n.320+46_320+47insAACA
ENST00000649545.1:c.54+46_54+47insAACA
ENST00000649688.1:c.320+46_320+47insAACA	ENSP00000497097.1:n.320+46_320+47insAACA
ENST00000649814.1:n.369+46_369+47insAACA
ENST00000650244.1:c.465+46_465+47insAACA	ENSP00000497227.1:n.465+46_465+47insAACA
ENST00000650270.1:c.187+46_187+47insAACA
ENST00000273783.7:c.320+46_320+47insAACA	ENSP00000273783.3:n.320+46_320+47insAACA
ENST00000432569.1:c.*42_*43insAACA	ENSP00000414775.1:n.*42_*43insAACA
ENST00000432982.5:c.245+107_245+108insAACA
ENST00000444495.1:c.320+46_320+47insAACA	ENSP00000409142.1:n.320+46_320+47insAACA
ENST00000471832.1:n.297_298insAACA
ENST00000481054.5:n.321+46_321+47insAACA
ENST00000491144.5:n.668+46_668+47insAACA
ENST00000498831.1:n.176+46_176+47insAACA
NM_003907.2:c.320+46_320+47insAACA	NP_003898.2:n.320+46_320+47insAACA
XR_924208.1:n.1271+46_1271+47insAACA
NM_003907.3:c.320+46_320+47insAACA MANE Select	NP_003898.2:n.320+46_320+47insAACA
XM_011513266.3:c.-582+46_-582+47insAACA	XP_011511568.1:n.-582+46_-582+47insAACA
XR_001740352.2:n.683+46_683+47insAACA
XR_001740353.2:n.683+46_683+47insAACA
XR_924208.2:n.683+46_683+47insAACA