Canonical Allele Identifier: CA1425887006

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184141822_184141826delinsAGGTG , CM000665.2:g.184141822_184141826delinsAGGTG	GRCh38
NC_000003.11:g.183859610_183859614delinsAGGTG , CM000665.1:g.183859610_183859614delinsAGGTG	GRCh37
NC_000003.10:g.185342304_185342308delinsAGGTG	NCBI36
NG_015826.1:g.11801_11805delinsAGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.1180-103_1180-99delinsAGGTG
ENST00000468748.7:n.1400-103_1400-99delinsAGGTG
ENST00000484154.2:n.1387-103_1387-99delinsAGGTG
ENST00000491008.6:n.1905-103_1905-99delinsAGGTG
ENST00000492226.2:n.1424-103_1424-99delinsAGGTG
ENST00000492773.6:c.911-103_911-99delinsAGGTG
ENST00000647636.1:c.1157-45_1157-41delinsAGGTG	ENSP00000497505.1:n.1157-45_1157-41delinsAGGTG
ENST00000647909.1:c.1181-103_1181-99delinsAGGTG	ENSP00000498164.1:n.1181-103_1181-99delinsAGGTG
ENST00000648145.1:c.925-99_925-95delinsAGGTG
ENST00000648189.1:c.971-99_971-95delinsAGGTG
ENST00000648256.1:c.1129-103_1129-99delinsAGGTG	ENSP00000497356.1:n.1129-103_1129-99delinsAGGTG
ENST00000648314.1:c.*276-103_*276-99delinsAGGTG	ENSP00000496920.1:n.*276-103_*276-99delinsAGGTG
ENST00000648599.1:c.*440-103_*440-99delinsAGGTG	ENSP00000497159.1:n.*440-103_*440-99delinsAGGTG
ENST00000648630.1:c.1036-103_1036-99delinsAGGTG	ENSP00000497887.1:n.1036-103_1036-99delinsAGGTG
ENST00000648682.1:c.1167-103_1167-99delinsAGGTG	ENSP00000498185.1:n.1167-103_1167-99delinsAGGTG
ENST00000648882.1:c.*983-103_*983-99delinsAGGTG	ENSP00000497603.1:n.*983-103_*983-99delinsAGGTG
ENST00000648890.1:c.1157-103_1157-99delinsAGGTG	ENSP00000497503.1:n.1157-103_1157-99delinsAGGTG
ENST00000648915.2:c.1157-103_1157-99delinsAGGTG MANE Select	ENSP00000497160.1:n.1157-103_1157-99delinsAGGTG
ENST00000649545.1:c.578-103_578-99delinsAGGTG
ENST00000649688.1:c.*450-103_*450-99delinsAGGTG	ENSP00000497097.1:n.*450-103_*450-99delinsAGGTG
ENST00000649814.1:n.1206-103_1206-99delinsAGGTG
ENST00000650270.1:c.1024-103_1024-99delinsAGGTG
ENST00000273783.7:c.1157-103_1157-99delinsAGGTG	ENSP00000273783.3:n.1157-103_1157-99delinsAGGTG
ENST00000432982.5:c.246-415_246-411delinsAGGTG
ENST00000444495.1:c.1157-103_1157-99delinsAGGTG	ENSP00000409142.1:n.1157-103_1157-99delinsAGGTG
ENST00000479833.1:n.358-103_358-99delinsAGGTG
ENST00000481054.5:n.1251-103_1251-99delinsAGGTG
ENST00000491144.5:n.1661-103_1661-99delinsAGGTG
ENST00000492773.5:n.40-103_40-99delinsAGGTG
NM_003907.2:c.1157-103_1157-99delinsAGGTG	NP_003898.2:n.1157-103_1157-99delinsAGGTG
XM_011513265.1:c.407-103_407-99delinsAGGTG	XP_011511567.1:n.407-103_407-99delinsAGGTG
XM_011513266.1:c.320-103_320-99delinsAGGTG	XP_011511568.1:n.320-103_320-99delinsAGGTG
XR_924208.1:n.2108-103_2108-99delinsAGGTG
NM_003907.3:c.1157-103_1157-99delinsAGGTG MANE Select	NP_003898.2:n.1157-103_1157-99delinsAGGTG
XM_011513266.3:c.320-103_320-99delinsAGGTG	XP_011511568.1:n.320-103_320-99delinsAGGTG
XR_001740352.2:n.1520-103_1520-99delinsAGGTG
XR_001740353.2:n.1520-103_1520-99delinsAGGTG
XR_924208.2:n.1520-103_1520-99delinsAGGTG