Canonical Allele Identifier: CA903705888

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1301639777
• MyVariant Identifiers: chr3:g.183855708_183855719del (hg19) ; chr3:g.184137920_184137931del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137921_184137932del , CM000665.2:g.184137921_184137932del	GRCh38
NC_000003.11:g.183855709_183855720del , CM000665.1:g.183855709_183855720del	GRCh37
NC_000003.10:g.185338403_185338414del	NCBI36
NG_015826.1:g.7900_7911del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.553_564del
ENST00000468748.7:n.513_524del
ENST00000484154.2:n.1151_1162del
ENST00000491008.6:n.1278_1289del
ENST00000492226.2:n.527_538del
ENST00000492773.6:c.262_273del
ENST00000647636.1:c.530_541del	ENSP00000497505.1:p.Asn177_Val180del
ENST00000647909.1:c.554_565del	ENSP00000498164.1:p.Asn185_Val188del
ENST00000648145.1:c.298_309del
ENST00000648189.1:c.280_291del
ENST00000648256.1:c.479_490del	ENSP00000497356.1:p.Asn160_Val163del
ENST00000648314.1:c.530_541del	ENSP00000496920.1:p.Asn177_Val180del
ENST00000648599.1:c.530_541del	ENSP00000497159.1:p.Asn177_Val180del
ENST00000648630.1:c.524_535del	ENSP00000497887.1:p.Asn175_Val178del
ENST00000648682.1:c.530_541del	ENSP00000498185.1:p.Asn177_Val180del
ENST00000648882.1:c.*356_*367del	ENSP00000497603.1:n.*356_*367del
ENST00000648890.1:c.530_541del	ENSP00000497503.1:p.Asn177_Val180del
ENST00000648915.2:c.530_541del MANE Select	ENSP00000497160.1:p.Asn177_Val180del
ENST00000649545.1:c.264_275del
ENST00000649688.1:c.530_541del	ENSP00000497097.1:p.Asn177_Val180del
ENST00000649814.1:n.579_590del
ENST00000650244.1:c.675_686del	ENSP00000497227.1:n.675_686del
ENST00000650270.1:c.397_408del
ENST00000273783.7:c.530_541del	ENSP00000273783.3:p.Asn177_Val180del
ENST00000432982.5:c.245+1246_245+1257del
ENST00000444495.1:c.530_541del	ENSP00000409142.1:p.Asn177_Val180del
ENST00000481054.5:n.531_542del
ENST00000491008.5:n.494_505del
ENST00000491144.5:n.970_981del
ENST00000498831.1:n.485_496del
NM_003907.2:c.530_541del	NP_003898.2:p.Asn177_Val180del
XR_924208.1:n.1481_1492del
NM_003907.3:c.530_541del MANE Select	NP_003898.2:p.Asn177_Val180del
XM_011513266.3:c.-372_-361del	XP_011511568.1:n.-372_-361del
XR_001740352.2:n.893_904del
XR_001740353.2:n.893_904del
XR_924208.2:n.893_904del