Canonical Allele Identifier: CA1425886934

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141742_184141745delinsTTGG , CM000665.2:g.184141742_184141745delinsTTGG	GRCh38
NC_000003.11:g.183859530_183859533delinsTTGG , CM000665.1:g.183859530_183859533delinsTTGG	GRCh37
NC_000003.10:g.185342224_185342227delinsTTGG	NCBI36
NG_015826.1:g.11721_11724delinsTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1180-183_1180-180delinsTTGG
ENST00000468748.7:n.1400-183_1400-180delinsTTGG
ENST00000484154.2:n.1387-183_1387-180delinsTTGG
ENST00000491008.6:n.1905-183_1905-180delinsTTGG
ENST00000492226.2:n.1424-183_1424-180delinsTTGG
ENST00000492773.6:c.911-183_911-180delinsTTGG
ENST00000647636.1:c.1157-125_1157-122delinsTTGG	ENSP00000497505.1:n.1157-125_1157-122delinsTTGG
ENST00000647909.1:c.1181-183_1181-180delinsTTGG	ENSP00000498164.1:n.1181-183_1181-180delinsTTGG
ENST00000648145.1:c.925-179_925-176delinsTTGG
ENST00000648189.1:c.971-179_971-176delinsTTGG
ENST00000648256.1:c.1129-183_1129-180delinsTTGG	ENSP00000497356.1:n.1129-183_1129-180delinsTTGG
ENST00000648314.1:c.*276-183_*276-180delinsTTGG	ENSP00000496920.1:n.*276-183_*276-180delinsTTGG
ENST00000648599.1:c.*440-183_*440-180delinsTTGG	ENSP00000497159.1:n.*440-183_*440-180delinsTTGG
ENST00000648630.1:c.1036-183_1036-180delinsTTGG	ENSP00000497887.1:n.1036-183_1036-180delinsTTGG
ENST00000648682.1:c.1167-183_1167-180delinsTTGG	ENSP00000498185.1:n.1167-183_1167-180delinsTTGG
ENST00000648882.1:c.*983-183_*983-180delinsTTGG	ENSP00000497603.1:n.*983-183_*983-180delinsTTGG
ENST00000648890.1:c.1157-183_1157-180delinsTTGG	ENSP00000497503.1:n.1157-183_1157-180delinsTTGG
ENST00000648915.2:c.1157-183_1157-180delinsTTGG MANE Select	ENSP00000497160.1:n.1157-183_1157-180delinsTTGG
ENST00000649545.1:c.578-183_578-180delinsTTGG
ENST00000649688.1:c.*450-183_*450-180delinsTTGG	ENSP00000497097.1:n.*450-183_*450-180delinsTTGG
ENST00000649814.1:n.1206-183_1206-180delinsTTGG
ENST00000650270.1:c.1024-183_1024-180delinsTTGG
ENST00000273783.7:c.1157-183_1157-180delinsTTGG	ENSP00000273783.3:n.1157-183_1157-180delinsTTGG
ENST00000432982.5:c.246-495_246-492delinsTTGG
ENST00000444495.1:c.1157-183_1157-180delinsTTGG	ENSP00000409142.1:n.1157-183_1157-180delinsTTGG
ENST00000479833.1:n.358-183_358-180delinsTTGG
ENST00000481054.5:n.1251-183_1251-180delinsTTGG
ENST00000491144.5:n.1661-183_1661-180delinsTTGG
ENST00000492773.5:n.40-183_40-180delinsTTGG
NM_003907.2:c.1157-183_1157-180delinsTTGG	NP_003898.2:n.1157-183_1157-180delinsTTGG
XM_011513265.1:c.407-183_407-180delinsTTGG	XP_011511567.1:n.407-183_407-180delinsTTGG
XM_011513266.1:c.320-183_320-180delinsTTGG	XP_011511568.1:n.320-183_320-180delinsTTGG
XR_924208.1:n.2108-183_2108-180delinsTTGG
NM_003907.3:c.1157-183_1157-180delinsTTGG MANE Select	NP_003898.2:n.1157-183_1157-180delinsTTGG
XM_011513266.3:c.320-183_320-180delinsTTGG	XP_011511568.1:n.320-183_320-180delinsTTGG
XR_001740352.2:n.1520-183_1520-180delinsTTGG
XR_001740353.2:n.1520-183_1520-180delinsTTGG
XR_924208.2:n.1520-183_1520-180delinsTTGG