Canonical Allele Identifier: CA2668797654

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184140020-T-TAA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140020_184140021insAA , CM000665.2:g.184140020_184140021insAA	GRCh38
NC_000003.11:g.183857808_183857809insAA , CM000665.1:g.183857808_183857809insAA	GRCh37
NC_000003.10:g.185340502_185340503insAA	NCBI36
NG_015826.1:g.9999_10000insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.789-60_789-59insAA
ENST00000468748.7:n.749-60_749-59insAA
ENST00000484154.2:n.1386+1774_1386+1775insAA
ENST00000491008.6:n.1514-60_1514-59insAA
ENST00000492226.2:n.763-60_763-59insAA
ENST00000492773.6:c.520-60_520-59insAA
ENST00000647636.1:c.766-60_766-59insAA	ENSP00000497505.1:n.766-60_766-59insAA
ENST00000647909.1:c.790-60_790-59insAA	ENSP00000498164.1:n.790-60_790-59insAA
ENST00000648145.1:c.534-60_534-59insAA
ENST00000648189.1:c.516-60_516-59insAA
ENST00000648256.1:c.715-37_715-36insAA	ENSP00000497356.1:n.715-37_715-36insAA
ENST00000648314.1:c.766-60_766-59insAA	ENSP00000496920.1:n.766-60_766-59insAA
ENST00000648599.1:c.*49-60_*49-59insAA	ENSP00000497159.1:n.*49-60_*49-59insAA
ENST00000648630.1:c.760-60_760-59insAA	ENSP00000497887.1:n.760-60_760-59insAA
ENST00000648682.1:c.766-60_766-59insAA	ENSP00000498185.1:n.766-60_766-59insAA
ENST00000648882.1:c.*592-60_*592-59insAA	ENSP00000497603.1:n.*592-60_*592-59insAA
ENST00000648890.1:c.766-60_766-59insAA	ENSP00000497503.1:n.766-60_766-59insAA
ENST00000648915.2:c.766-60_766-59insAA MANE Select	ENSP00000497160.1:n.766-60_766-59insAA
ENST00000649545.1:c.500-60_500-59insAA
ENST00000649688.1:c.*49-60_*49-59insAA	ENSP00000497097.1:n.*49-60_*49-59insAA
ENST00000649814.1:n.815-60_815-59insAA
ENST00000650270.1:c.633-60_633-59insAA
ENST00000273783.7:c.766-60_766-59insAA	ENSP00000273783.3:n.766-60_766-59insAA
ENST00000432982.5:c.246-2217_246-2216insAA
ENST00000444495.1:c.766-60_766-59insAA	ENSP00000409142.1:n.766-60_766-59insAA
ENST00000468748.5:n.219-60_219-59insAA
ENST00000479833.1:n.82-60_82-59insAA
ENST00000481054.5:n.860-60_860-59insAA
ENST00000491008.5:n.730-60_730-59insAA
ENST00000491144.5:n.1206-60_1206-59insAA
NM_003907.2:c.766-60_766-59insAA	NP_003898.2:n.766-60_766-59insAA
XM_011513265.1:c.16-60_16-59insAA	XP_011511567.1:n.16-60_16-59insAA
XR_924208.1:n.1717-60_1717-59insAA
NM_003907.3:c.766-60_766-59insAA MANE Select	NP_003898.2:n.766-60_766-59insAA
XM_011513266.3:c.-136-60_-136-59insAA	XP_011511568.1:n.-136-60_-136-59insAA
XR_001740352.2:n.1129-60_1129-59insAA
XR_001740353.2:n.1129-60_1129-59insAA
XR_924208.2:n.1129-60_1129-59insAA