Canonical Allele Identifier: CA548793903

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1314920482
• gnomAD v2: 3-183855587-AAC-A
• gnomAD v4: 3-184137799-AAC-A
• MyVariant Identifiers: chr3:g.183855588_183855589del (hg19) ; chr3:g.184137800_184137801del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137803_184137804del , CM000665.2:g.184137803_184137804del	GRCh38
NC_000003.11:g.183855591_183855592del , CM000665.1:g.183855591_183855592del	GRCh37
NC_000003.10:g.185338285_185338286del	NCBI36
NG_015826.1:g.7782_7783del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.527_528del
ENST00000468748.7:n.487_488del
ENST00000484154.2:n.1125_1126del
ENST00000491008.6:n.1252_1253del
ENST00000492226.2:n.501_502del
ENST00000492773.6:c.236_237del
ENST00000647636.1:c.504_505del	ENSP00000497505.1:p.His168GlnfsTer?
ENST00000647909.1:c.504_505del	ENSP00000498164.1:p.His168GlnfsTer9
ENST00000648145.1:c.272_273del
ENST00000648189.1:c.254_255del
ENST00000648256.1:c.453_454del	ENSP00000497356.1:p.His151GlnfsTer?
ENST00000648314.1:c.504_505del	ENSP00000496920.1:p.His168GlnfsTer?
ENST00000648599.1:c.504_505del	ENSP00000497159.1:p.His168GlnfsTer?
ENST00000648630.1:c.498_499del	ENSP00000497887.1:p.His166GlnfsTer?
ENST00000648682.1:c.504_505del	ENSP00000498185.1:p.His168GlnfsTer?
ENST00000648882.1:c.*330_*331del	ENSP00000497603.1:n.*330_*331del
ENST00000648890.1:c.504_505del	ENSP00000497503.1:p.His168GlnfsTer?
ENST00000648915.2:c.504_505del MANE Select	ENSP00000497160.1:p.His168GlnfsTer?
ENST00000649545.1:c.238_239del
ENST00000649688.1:c.504_505del	ENSP00000497097.1:p.His168GlnfsTer?
ENST00000649814.1:n.553_554del
ENST00000650244.1:c.649_650del	ENSP00000497227.1:n.649_650del
ENST00000650270.1:c.371_372del
ENST00000273783.7:c.504_505del	ENSP00000273783.3:p.His168GlnfsTer?
ENST00000432982.5:c.245+1128_245+1129del
ENST00000444495.1:c.504_505del	ENSP00000409142.1:p.His168GlnfsTer?
ENST00000481054.5:n.505_506del
ENST00000491008.5:n.468_469del
ENST00000491144.5:n.852_853del
ENST00000498831.1:n.459_460del
NM_003907.2:c.504_505del	NP_003898.2:p.His168GlnfsTer?
XR_924208.1:n.1455_1456del
NM_003907.3:c.504_505del MANE Select	NP_003898.2:p.His168GlnfsTer?
XM_011513266.3:c.-398_-397del	XP_011511568.1:n.-398_-397del
XR_001740352.2:n.867_868del
XR_001740353.2:n.867_868del
XR_924208.2:n.867_868del