Canonical Allele Identifier: CA548394587

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1387243806
• gnomAD v2: 3-183854692-TTGTATC-T
• gnomAD v3: 3-184136904-TTGTATC-T
• gnomAD v4: 3-184136904-TTGTATC-T
• MyVariant Identifiers: chr3:g.183854693_183854698del (hg19) ; chr3:g.184136905_184136910del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136908_184136913del , CM000665.2:g.184136908_184136913del	GRCh38
NC_000003.11:g.183854696_183854701del , CM000665.1:g.183854696_183854701del	GRCh37
NC_000003.10:g.185337390_185337395del	NCBI36
NG_015826.1:g.6887_6892del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.*168_*173del	ENSP00000414775.1:n.*168_*173del
ENST00000465218.3:n.343+172_343+177del
ENST00000468748.7:n.303+172_303+177del
ENST00000471832.2:c.*486_*491del	ENSP00000497786.1:n.*486_*491del
ENST00000484154.2:n.230_235del
ENST00000491008.6:n.357_362del
ENST00000492226.2:n.317+172_317+177del
ENST00000492773.6:c.52+172_52+177del
ENST00000647636.1:c.320+172_320+177del	ENSP00000497505.1:n.320+172_320+177del
ENST00000647909.1:c.320+172_320+177del	ENSP00000498164.1:n.320+172_320+177del
ENST00000648145.1:c.88+172_88+177del
ENST00000648189.1:c.70+172_70+177del
ENST00000648256.1:c.269+172_269+177del	ENSP00000497356.1:n.269+172_269+177del
ENST00000648314.1:c.320+172_320+177del	ENSP00000496920.1:n.320+172_320+177del
ENST00000648599.1:c.320+172_320+177del	ENSP00000497159.1:n.320+172_320+177del
ENST00000648630.1:c.314+172_314+177del	ENSP00000497887.1:n.314+172_314+177del
ENST00000648682.1:c.320+172_320+177del	ENSP00000498185.1:n.320+172_320+177del
ENST00000648882.1:c.*146+172_*146+177del	ENSP00000497603.1:n.*146+172_*146+177del
ENST00000648890.1:c.320+172_320+177del	ENSP00000497503.1:n.320+172_320+177del
ENST00000648915.2:c.320+172_320+177del MANE Select	ENSP00000497160.1:n.320+172_320+177del
ENST00000649545.1:c.54+172_54+177del
ENST00000649688.1:c.320+172_320+177del	ENSP00000497097.1:n.320+172_320+177del
ENST00000649814.1:n.369+172_369+177del
ENST00000650244.1:c.465+172_465+177del	ENSP00000497227.1:n.465+172_465+177del
ENST00000650270.1:c.187+172_187+177del
ENST00000273783.7:c.320+172_320+177del	ENSP00000273783.3:n.320+172_320+177del
ENST00000432569.1:c.*168_*173del	ENSP00000414775.1:n.*168_*173del
ENST00000432982.5:c.245+233_245+238del
ENST00000444495.1:c.320+172_320+177del	ENSP00000409142.1:n.320+172_320+177del
ENST00000471832.1:n.423_428del
ENST00000481054.5:n.321+172_321+177del
ENST00000491144.5:n.668+172_668+177del
ENST00000498831.1:n.176+172_176+177del
NM_003907.2:c.320+172_320+177del	NP_003898.2:n.320+172_320+177del
XR_924208.1:n.1271+172_1271+177del
NM_003907.3:c.320+172_320+177del MANE Select	NP_003898.2:n.320+172_320+177del
XM_011513266.3:c.-582+172_-582+177del	XP_011511568.1:n.-582+172_-582+177del
XR_001740352.2:n.683+172_683+177del
XR_001740353.2:n.683+172_683+177del
XR_924208.2:n.683+172_683+177del