Canonical Allele Identifier: CA2704964578

Gene: EIF2B5

Linked Data

• dbSNP Id: rs2109005476

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184135374_184135375del , CM000665.2:g.184135374_184135375del	GRCh38
NC_000003.11:g.183853162_183853163del , CM000665.1:g.183853162_183853163del	GRCh37
NC_000003.10:g.185335856_185335857del	NCBI36
NG_015826.1:g.5353_5354del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432569.2:c.-12_-11del	ENSP00000414775.1:n.-12_-11del
ENST00000465218.3:n.12_13del
ENST00000471832.2:c.-12_-11del	ENSP00000497786.1:n.-12_-11del
ENST00000647636.1:c.-12_-11del	ENSP00000497505.1:n.-12_-11del
ENST00000648314.1:c.-12_-11del	ENSP00000496920.1:n.-12_-11del
ENST00000648915.2:c.-12_-11del MANE Select	ENSP00000497160.1:n.-12_-11del
ENST00000649814.1:n.38_39del
ENST00000273783.7:c.-12_-11del	ENSP00000273783.3:n.-12_-11del
ENST00000432569.1:c.-12_-11del	ENSP00000414775.1:n.-12_-11del
ENST00000491144.5:n.337_338del
NM_003907.2:c.-12_-11del	NP_003898.2:n.-12_-11del
XR_924208.1:n.940_941del
NM_003907.3:c.-12_-11del MANE Select	NP_003898.2:n.-12_-11del
XR_001740352.2:n.352_353del
XR_001740353.2:n.352_353del
XR_924208.2:n.352_353del