Canonical Allele Identifier: CA1057206594

Gene: EIF2B5

Linked Data

• dbSNP Id: rs1713418860
• gnomAD v3: 3-184137601-TC-T
• gnomAD v4: 3-184137601-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137602del , CM000665.2:g.184137602del	GRCh38
NC_000003.11:g.183855390del , CM000665.1:g.183855390del	GRCh37
NC_000003.10:g.185338084del	NCBI36
NG_015826.1:g.7581del

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.344-18del
ENST00000468748.7:n.304-18del
ENST00000484154.2:n.924del
ENST00000491008.6:n.1051del
ENST00000492226.2:n.318-18del
ENST00000492773.6:c.53-18del
ENST00000647636.1:c.321-18del	ENSP00000497505.1:n.321-18del
ENST00000647909.1:c.321-18del	ENSP00000498164.1:n.321-18del
ENST00000648145.1:c.89-18del
ENST00000648189.1:c.71-18del
ENST00000648256.1:c.270-18del	ENSP00000497356.1:n.270-18del
ENST00000648314.1:c.321-18del	ENSP00000496920.1:n.321-18del
ENST00000648599.1:c.321-18del	ENSP00000497159.1:n.321-18del
ENST00000648630.1:c.315-18del	ENSP00000497887.1:n.315-18del
ENST00000648682.1:c.321-18del	ENSP00000498185.1:n.321-18del
ENST00000648882.1:c.*147-18del	ENSP00000497603.1:n.*147-18del
ENST00000648890.1:c.321-18del	ENSP00000497503.1:n.321-18del
ENST00000648915.2:c.321-18del MANE Select	ENSP00000497160.1:n.321-18del
ENST00000649545.1:c.55-18del
ENST00000649688.1:c.321-18del	ENSP00000497097.1:n.321-18del
ENST00000649814.1:n.370-18del
ENST00000650244.1:c.466-18del	ENSP00000497227.1:n.466-18del
ENST00000650270.1:c.188-18del
ENST00000273783.7:c.321-18del	ENSP00000273783.3:n.321-18del
ENST00000432982.5:c.245+927del
ENST00000444495.1:c.321-18del	ENSP00000409142.1:n.321-18del
ENST00000481054.5:n.322-18del
ENST00000491008.5:n.267del
ENST00000491144.5:n.669-18del
ENST00000498831.1:n.276-18del
NM_003907.2:c.321-18del	NP_003898.2:n.321-18del
XR_924208.1:n.1272-18del
NM_003907.3:c.321-18del MANE Select	NP_003898.2:n.321-18del
XM_011513266.3:c.-581-18del	XP_011511568.1:n.-581-18del
XR_001740352.2:n.684-18del
XR_001740353.2:n.684-18del
XR_924208.2:n.684-18del