Canonical Allele Identifier: CA2704965063

Gene: EIF2B5

Linked Data

• dbSNP Id: rs2109006387

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184136726_184136727del , CM000665.2:g.184136726_184136727del	GRCh38
NC_000003.11:g.183854514_183854515del , CM000665.1:g.183854514_183854515del	GRCh37
NC_000003.10:g.185337208_185337209del	NCBI36
NG_015826.1:g.6705_6706del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.310_311del	ENSP00000414775.1:p.Glu104ThrfsTer?
ENST00000465218.3:n.333_334del
ENST00000468748.7:n.293_294del
ENST00000471832.2:c.*304_*305del	ENSP00000497786.1:n.*304_*305del
ENST00000484154.2:n.48_49del
ENST00000491008.6:n.175_176del
ENST00000492226.2:n.307_308del
ENST00000492773.6:c.42_43del
ENST00000647636.1:c.310_311del	ENSP00000497505.1:p.Glu104ThrfsTer?
ENST00000647909.1:c.310_311del	ENSP00000498164.1:p.Glu104ThrfsTer?
ENST00000648145.1:c.78_79del
ENST00000648189.1:c.60_61del
ENST00000648256.1:c.259_260del	ENSP00000497356.1:p.Glu87ThrfsTer?
ENST00000648314.1:c.310_311del	ENSP00000496920.1:p.Glu104ThrfsTer?
ENST00000648599.1:c.310_311del	ENSP00000497159.1:p.Glu104ThrfsTer?
ENST00000648630.1:c.304_305del	ENSP00000497887.1:p.Glu102ThrfsTer?
ENST00000648682.1:c.310_311del	ENSP00000498185.1:p.Glu104ThrfsTer?
ENST00000648882.1:c.*136_*137del	ENSP00000497603.1:n.*136_*137del
ENST00000648890.1:c.310_311del	ENSP00000497503.1:p.Glu104ThrfsTer?
ENST00000648915.2:c.310_311del MANE Select	ENSP00000497160.1:p.Glu104ThrfsTer?
ENST00000649545.1:c.44_45del
ENST00000649688.1:c.310_311del	ENSP00000497097.1:p.Glu104ThrfsTer?
ENST00000649814.1:n.359_360del
ENST00000650244.1:c.455_456del	ENSP00000497227.1:n.455_456del
ENST00000650270.1:c.177_178del
ENST00000273783.7:c.310_311del	ENSP00000273783.3:p.Glu104ThrfsTer?
ENST00000432569.1:c.310_311del	ENSP00000414775.1:p.Glu104ThrfsTer?
ENST00000432982.5:c.245+51_245+52del
ENST00000444495.1:c.310_311del	ENSP00000409142.1:p.Glu104ThrfsTer?
ENST00000471832.1:n.241_242del
ENST00000481054.5:n.311_312del
ENST00000491144.5:n.658_659del
ENST00000498831.1:n.166_167del
NM_003907.2:c.310_311del	NP_003898.2:p.Glu104ThrfsTer?
XR_924208.1:n.1261_1262del
NM_003907.3:c.310_311del MANE Select	NP_003898.2:p.Glu104ThrfsTer?
XM_011513266.3:c.-592_-591del	XP_011511568.1:n.-592_-591del
XR_001740352.2:n.673_674del
XR_001740353.2:n.673_674del
XR_924208.2:n.673_674del