Canonical Allele Identifier: CA1425886930

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1713642723

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141735_184141737del , CM000665.2:g.184141735_184141737del	GRCh38
NC_000003.11:g.183859523_183859525del , CM000665.1:g.183859523_183859525del	GRCh37
NC_000003.10:g.185342217_185342219del	NCBI36
NG_015826.1:g.11714_11716del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1180-190_1180-188del
ENST00000468748.7:n.1400-190_1400-188del
ENST00000484154.2:n.1387-190_1387-188del
ENST00000491008.6:n.1905-190_1905-188del
ENST00000492226.2:n.1424-190_1424-188del
ENST00000492773.6:c.911-190_911-188del
ENST00000647636.1:c.1157-132_1157-130del	ENSP00000497505.1:n.1157-132_1157-130del
ENST00000647909.1:c.1181-190_1181-188del	ENSP00000498164.1:n.1181-190_1181-188del
ENST00000648145.1:c.925-186_925-184del
ENST00000648189.1:c.971-186_971-184del
ENST00000648256.1:c.1129-190_1129-188del	ENSP00000497356.1:n.1129-190_1129-188del
ENST00000648314.1:c.*276-190_*276-188del	ENSP00000496920.1:n.*276-190_*276-188del
ENST00000648599.1:c.*440-190_*440-188del	ENSP00000497159.1:n.*440-190_*440-188del
ENST00000648630.1:c.1036-190_1036-188del	ENSP00000497887.1:n.1036-190_1036-188del
ENST00000648682.1:c.1167-190_1167-188del	ENSP00000498185.1:n.1167-190_1167-188del
ENST00000648882.1:c.*983-190_*983-188del	ENSP00000497603.1:n.*983-190_*983-188del
ENST00000648890.1:c.1157-190_1157-188del	ENSP00000497503.1:n.1157-190_1157-188del
ENST00000648915.2:c.1157-190_1157-188del MANE Select	ENSP00000497160.1:n.1157-190_1157-188del
ENST00000649545.1:c.578-190_578-188del
ENST00000649688.1:c.*450-190_*450-188del	ENSP00000497097.1:n.*450-190_*450-188del
ENST00000649814.1:n.1206-190_1206-188del
ENST00000650270.1:c.1024-190_1024-188del
ENST00000273783.7:c.1157-190_1157-188del	ENSP00000273783.3:n.1157-190_1157-188del
ENST00000432982.5:c.246-502_246-500del
ENST00000444495.1:c.1157-190_1157-188del	ENSP00000409142.1:n.1157-190_1157-188del
ENST00000479833.1:n.358-190_358-188del
ENST00000481054.5:n.1251-190_1251-188del
ENST00000491144.5:n.1661-190_1661-188del
ENST00000492773.5:n.40-190_40-188del
NM_003907.2:c.1157-190_1157-188del	NP_003898.2:n.1157-190_1157-188del
XM_011513265.1:c.407-190_407-188del	XP_011511567.1:n.407-190_407-188del
XM_011513266.1:c.320-190_320-188del	XP_011511568.1:n.320-190_320-188del
XR_924208.1:n.2108-190_2108-188del
NM_003907.3:c.1157-190_1157-188del MANE Select	NP_003898.2:n.1157-190_1157-188del
XM_011513266.3:c.320-190_320-188del	XP_011511568.1:n.320-190_320-188del
XR_001740352.2:n.1520-190_1520-188del
XR_001740353.2:n.1520-190_1520-188del
XR_924208.2:n.1520-190_1520-188del