Canonical Allele Identifier: CA2697557007

Gene: EIF2B5

Linked Data

• ClinVar Variation Id: 2768396
• ClinVar RCV Id: RCV003576364

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184138173_184138183del , CM000665.2:g.184138173_184138183del	GRCh38
NC_000003.11:g.183855961_183855971del , CM000665.1:g.183855961_183855971del	GRCh37
NC_000003.10:g.185338655_185338665del	NCBI36
NG_015826.1:g.8152_8162del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.715_725del
ENST00000468748.7:n.675_685del
ENST00000484154.2:n.1313_1323del
ENST00000491008.6:n.1440_1450del
ENST00000492226.2:n.689_699del
ENST00000492773.6:c.446_456del
ENST00000647636.1:c.692_702del	ENSP00000497505.1:p.Phe231Ter
ENST00000647909.1:c.716_726del	ENSP00000498164.1:p.Phe239Ter
ENST00000648145.1:c.460_470del
ENST00000648189.1:c.442_452del
ENST00000648256.1:c.641_651del	ENSP00000497356.1:p.Phe214Ter
ENST00000648314.1:c.692_702del	ENSP00000496920.1:p.Phe231Ter
ENST00000648599.1:c.692_702del	ENSP00000497159.1:p.Phe231Ter
ENST00000648630.1:c.686_696del	ENSP00000497887.1:p.Phe229Ter
ENST00000648682.1:c.692_702del	ENSP00000498185.1:p.Phe231Ter
ENST00000648882.1:c.*518_*528del	ENSP00000497603.1:n.*518_*528del
ENST00000648890.1:c.692_702del	ENSP00000497503.1:p.Phe231Ter
ENST00000648915.2:c.692_702del MANE Select	ENSP00000497160.1:p.Phe231Ter
ENST00000649545.1:c.426_436del
ENST00000649688.1:c.692_702del	ENSP00000497097.1:p.Phe231Ter
ENST00000649814.1:n.741_751del
ENST00000650270.1:c.559_569del
ENST00000273783.7:c.692_702del	ENSP00000273783.3:p.Phe231Ter
ENST00000432982.5:c.245+1498_245+1508del
ENST00000444495.1:c.692_702del	ENSP00000409142.1:p.Phe231Ter
ENST00000468748.5:n.145_155del
ENST00000479833.1:n.8_18del
ENST00000481054.5:n.693_703del
ENST00000491008.5:n.656_666del
ENST00000491144.5:n.1132_1142del
NM_003907.2:c.692_702del	NP_003898.2:p.Phe231Ter
XR_924208.1:n.1643_1653del
NM_003907.3:c.692_702del MANE Select	NP_003898.2:p.Phe231Ter
XM_011513266.3:c.-210_-200del	XP_011511568.1:n.-210_-200del
XR_001740352.2:n.1055_1065del
XR_001740353.2:n.1055_1065del
XR_924208.2:n.1055_1065del