Canonical Allele Identifier: CA2668795860

Gene: EIF2B5

Linked Data

• gnomAD v4: 3-184135381-AGAAGAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184135383_184135388del , CM000665.2:g.184135383_184135388del	GRCh38
NC_000003.11:g.183853171_183853176del , CM000665.1:g.183853171_183853176del	GRCh37
NC_000003.10:g.185335865_185335870del	NCBI36
NG_015826.1:g.5362_5367del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.-3_3del
ENST00000465218.3:n.21_26del
ENST00000471832.2:c.-3_3del
ENST00000647636.1:c.-3_3del
ENST00000647909.1:c.-3_3del
ENST00000648314.1:c.-3_3del
ENST00000648599.1:c.-3_3del
ENST00000648682.1:c.-3_3del
ENST00000648890.1:c.-3_3del
ENST00000648915.2:c.-3_3del
ENST00000649688.1:c.-3_3del
ENST00000649814.1:n.47_52del
ENST00000273783.7:c.-3_3del
ENST00000432569.1:c.-3_3del
ENST00000444495.1:c.-3_3del
ENST00000491144.5:n.346_351del
NM_003907.2:c.-3_3del
XR_924208.1:n.949_954del
NM_003907.3:c.-3_3del
XM_011513266.3:c.-904_-899del	XP_011511568.1:n.-904_-899del
XR_001740352.2:n.361_366del
XR_001740353.2:n.361_366del
XR_924208.2:n.361_366del