Canonical Allele Identifier: CA1425887007

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1713645719

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141825_184141828del , CM000665.2:g.184141825_184141828del	GRCh38
NC_000003.11:g.183859613_183859616del , CM000665.1:g.183859613_183859616del	GRCh37
NC_000003.10:g.185342307_185342310del	NCBI36
NG_015826.1:g.11804_11807del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1180-100_1180-97del
ENST00000468748.7:n.1400-100_1400-97del
ENST00000484154.2:n.1387-100_1387-97del
ENST00000491008.6:n.1905-100_1905-97del
ENST00000492226.2:n.1424-100_1424-97del
ENST00000492773.6:c.911-100_911-97del
ENST00000647636.1:c.1157-42_1157-39del	ENSP00000497505.1:n.1157-42_1157-39del
ENST00000647909.1:c.1181-100_1181-97del	ENSP00000498164.1:n.1181-100_1181-97del
ENST00000648145.1:c.925-96_925-93del
ENST00000648189.1:c.971-96_971-93del
ENST00000648256.1:c.1129-100_1129-97del	ENSP00000497356.1:n.1129-100_1129-97del
ENST00000648314.1:c.*276-100_*276-97del	ENSP00000496920.1:n.*276-100_*276-97del
ENST00000648599.1:c.*440-100_*440-97del	ENSP00000497159.1:n.*440-100_*440-97del
ENST00000648630.1:c.1036-100_1036-97del	ENSP00000497887.1:n.1036-100_1036-97del
ENST00000648682.1:c.1167-100_1167-97del	ENSP00000498185.1:n.1167-100_1167-97del
ENST00000648882.1:c.*983-100_*983-97del	ENSP00000497603.1:n.*983-100_*983-97del
ENST00000648890.1:c.1157-100_1157-97del	ENSP00000497503.1:n.1157-100_1157-97del
ENST00000648915.2:c.1157-100_1157-97del MANE Select	ENSP00000497160.1:n.1157-100_1157-97del
ENST00000649545.1:c.578-100_578-97del
ENST00000649688.1:c.*450-100_*450-97del	ENSP00000497097.1:n.*450-100_*450-97del
ENST00000649814.1:n.1206-100_1206-97del
ENST00000650270.1:c.1024-100_1024-97del
ENST00000273783.7:c.1157-100_1157-97del	ENSP00000273783.3:n.1157-100_1157-97del
ENST00000432982.5:c.246-412_246-409del
ENST00000444495.1:c.1157-100_1157-97del	ENSP00000409142.1:n.1157-100_1157-97del
ENST00000479833.1:n.358-100_358-97del
ENST00000481054.5:n.1251-100_1251-97del
ENST00000491144.5:n.1661-100_1661-97del
ENST00000492773.5:n.40-100_40-97del
NM_003907.2:c.1157-100_1157-97del	NP_003898.2:n.1157-100_1157-97del
XM_011513265.1:c.407-100_407-97del	XP_011511567.1:n.407-100_407-97del
XM_011513266.1:c.320-100_320-97del	XP_011511568.1:n.320-100_320-97del
XR_924208.1:n.2108-100_2108-97del
NM_003907.3:c.1157-100_1157-97del MANE Select	NP_003898.2:n.1157-100_1157-97del
XM_011513266.3:c.320-100_320-97del	XP_011511568.1:n.320-100_320-97del
XR_001740352.2:n.1520-100_1520-97del
XR_001740353.2:n.1520-100_1520-97del
XR_924208.2:n.1520-100_1520-97del