Canonical Allele Identifier: CA548793925

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1560107180
• gnomAD v2: 3-183855779-TGTG-T
• gnomAD v4: 3-184137991-TGTG-T
• MyVariant Identifiers: chr3:g.183855780_183855782del (hg19) ; chr3:g.184137992_184137994del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137994_184137996del , CM000665.2:g.184137994_184137996del	GRCh38
NC_000003.11:g.183855782_183855784del , CM000665.1:g.183855782_183855784del	GRCh37
NC_000003.10:g.185338476_185338478del	NCBI36
NG_015826.1:g.7973_7975del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.626_628del
ENST00000468748.7:n.586_588del
ENST00000484154.2:n.1224_1226del
ENST00000491008.6:n.1351_1353del
ENST00000492226.2:n.600_602del
ENST00000492773.6:c.335_337del
ENST00000647636.1:c.603_605del	ENSP00000497505.1:p.Val202del
ENST00000647909.1:c.627_629del	ENSP00000498164.1:p.Val210del
ENST00000648145.1:c.371_373del
ENST00000648189.1:c.353_355del
ENST00000648256.1:c.552_554del	ENSP00000497356.1:p.Val185del
ENST00000648314.1:c.603_605del	ENSP00000496920.1:p.Val202del
ENST00000648599.1:c.603_605del	ENSP00000497159.1:p.Val202del
ENST00000648630.1:c.597_599del	ENSP00000497887.1:p.Val200del
ENST00000648682.1:c.603_605del	ENSP00000498185.1:p.Val202del
ENST00000648882.1:c.*429_*431del	ENSP00000497603.1:n.*429_*431del
ENST00000648890.1:c.603_605del	ENSP00000497503.1:p.Val202del
ENST00000648915.2:c.603_605del MANE Select	ENSP00000497160.1:p.Val202del
ENST00000649545.1:c.337_339del
ENST00000649688.1:c.603_605del	ENSP00000497097.1:p.Val202del
ENST00000649814.1:n.652_654del
ENST00000650270.1:c.470_472del
ENST00000273783.7:c.603_605del	ENSP00000273783.3:p.Val202del
ENST00000432982.5:c.245+1319_245+1321del
ENST00000444495.1:c.603_605del	ENSP00000409142.1:p.Val202del
ENST00000468748.5:n.56_58del
ENST00000481054.5:n.604_606del
ENST00000491008.5:n.567_569del
ENST00000491144.5:n.1043_1045del
ENST00000498831.1:n.558_560del
NM_003907.2:c.603_605del	NP_003898.2:p.Val202del
XR_924208.1:n.1554_1556del
NM_003907.3:c.603_605del MANE Select	NP_003898.2:p.Val202del
XM_011513266.3:c.-299_-297del	XP_011511568.1:n.-299_-297del
XR_001740352.2:n.966_968del
XR_001740353.2:n.966_968del
XR_924208.2:n.966_968del