Canonical Allele Identifier: CA1425885161

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184140105_184140106delinsTT , CM000665.2:g.184140105_184140106delinsTT	GRCh38
NC_000003.11:g.183857893_183857894delinsTT , CM000665.1:g.183857893_183857894delinsTT	GRCh37
NC_000003.10:g.185340587_185340588delinsTT	NCBI36
NG_015826.1:g.10084_10085delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000465218.3:n.814_815delinsTT
ENST00000468748.7:n.774_775delinsTT
ENST00000484154.2:n.1387-1820_1387-1819delinsTT
ENST00000491008.6:n.1539_1540delinsTT
ENST00000492226.2:n.788_789delinsTT
ENST00000492773.6:c.545_546delinsTT
ENST00000647636.1:c.791_792delinsTT	ENSP00000497505.1:p.Phe264=
ENST00000647909.1:c.815_816delinsTT	ENSP00000498164.1:p.Phe272=
ENST00000648145.1:c.559_560delinsTT
ENST00000648189.1:c.541_542delinsTT
ENST00000648256.1:c.763_764delinsTT	ENSP00000497356.1:p.Leu255=
ENST00000648314.1:c.791_792delinsTT	ENSP00000496920.1:p.Phe264=
ENST00000648599.1:c.*74_*75delinsTT	ENSP00000497159.1:n.*74_*75delinsTT
ENST00000648630.1:c.785_786delinsTT	ENSP00000497887.1:p.Phe262=
ENST00000648682.1:c.791_792delinsTT	ENSP00000498185.1:p.Phe264=
ENST00000648882.1:c.*617_*618delinsTT	ENSP00000497603.1:n.*617_*618delinsTT
ENST00000648890.1:c.791_792delinsTT	ENSP00000497503.1:p.Phe264=
ENST00000648915.2:c.791_792delinsTT MANE Select	ENSP00000497160.1:p.Phe264=
ENST00000649545.1:c.525_526delinsTT
ENST00000649688.1:c.*74_*75delinsTT	ENSP00000497097.1:n.*74_*75delinsTT
ENST00000649814.1:n.840_841delinsTT
ENST00000650270.1:c.658_659delinsTT
ENST00000273783.7:c.791_792delinsTT	ENSP00000273783.3:p.Phe264=
ENST00000432982.5:c.246-2132_246-2131delinsTT
ENST00000444495.1:c.791_792delinsTT	ENSP00000409142.1:p.Phe264=
ENST00000468748.5:n.244_245delinsTT
ENST00000479833.1:n.107_108delinsTT
ENST00000481054.5:n.885_886delinsTT
ENST00000491008.5:n.755_756delinsTT
ENST00000491144.5:n.1231_1232delinsTT
NM_003907.2:c.791_792delinsTT	NP_003898.2:p.Phe264=
XM_011513265.1:c.41_42delinsTT	XP_011511567.1:p.Phe14=
XR_924208.1:n.1742_1743delinsTT
NM_003907.3:c.791_792delinsTT MANE Select	NP_003898.2:p.Phe264=
XM_011513266.3:c.-111_-110delinsTT	XP_011511568.1:n.-111_-110delinsTT
XR_001740352.2:n.1154_1155delinsTT
XR_001740353.2:n.1154_1155delinsTT
XR_924208.2:n.1154_1155delinsTT