Canonical Allele Identifier: CA1425882959

Gene: EIF2B5

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.184137991_184137994delinsTGTG , CM000665.2:g.184137991_184137994delinsTGTG	GRCh38
NC_000003.11:g.183855779_183855782delinsTGTG , CM000665.1:g.183855779_183855782delinsTGTG	GRCh37
NC_000003.10:g.185338473_185338476delinsTGTG	NCBI36
NG_015826.1:g.7970_7973delinsTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465218.3:n.623_626delinsTGTG
ENST00000468748.7:n.583_586delinsTGTG
ENST00000484154.2:n.1221_1224delinsTGTG
ENST00000491008.6:n.1348_1351delinsTGTG
ENST00000492226.2:n.597_600delinsTGTG
ENST00000492773.6:c.332_335delinsTGTG
ENST00000647636.1:c.600_603delinsTGTG	ENSP00000497505.1:p.Asn200=
ENST00000647909.1:c.624_627delinsTGTG	ENSP00000498164.1:p.Asn208=
ENST00000648145.1:c.368_371delinsTGTG
ENST00000648189.1:c.350_353delinsTGTG
ENST00000648256.1:c.549_552delinsTGTG	ENSP00000497356.1:p.Asn183=
ENST00000648314.1:c.600_603delinsTGTG	ENSP00000496920.1:p.Asn200=
ENST00000648599.1:c.600_603delinsTGTG	ENSP00000497159.1:p.Asn200=
ENST00000648630.1:c.594_597delinsTGTG	ENSP00000497887.1:p.Asn198=
ENST00000648682.1:c.600_603delinsTGTG	ENSP00000498185.1:p.Asn200=
ENST00000648882.1:c.*426_*429delinsTGTG	ENSP00000497603.1:n.*426_*429delinsTGTG
ENST00000648890.1:c.600_603delinsTGTG	ENSP00000497503.1:p.Asn200=
ENST00000648915.2:c.600_603delinsTGTG MANE Select	ENSP00000497160.1:p.Asn200=
ENST00000649545.1:c.334_337delinsTGTG
ENST00000649688.1:c.600_603delinsTGTG	ENSP00000497097.1:p.Asn200=
ENST00000649814.1:n.649_652delinsTGTG
ENST00000650270.1:c.467_470delinsTGTG
ENST00000273783.7:c.600_603delinsTGTG	ENSP00000273783.3:p.Asn200=
ENST00000432982.5:c.245+1316_245+1319delinsTGTG
ENST00000444495.1:c.600_603delinsTGTG	ENSP00000409142.1:p.Asn200=
ENST00000468748.5:n.53_56delinsTGTG
ENST00000481054.5:n.601_604delinsTGTG
ENST00000491008.5:n.564_567delinsTGTG
ENST00000491144.5:n.1040_1043delinsTGTG
ENST00000498831.1:n.555_558delinsTGTG
NM_003907.2:c.600_603delinsTGTG	NP_003898.2:p.Asn200=
XR_924208.1:n.1551_1554delinsTGTG
NM_003907.3:c.600_603delinsTGTG MANE Select	NP_003898.2:p.Asn200=
XM_011513266.3:c.-302_-299delinsTGTG	XP_011511568.1:n.-302_-299delinsTGTG
XR_001740352.2:n.963_966delinsTGTG
XR_001740353.2:n.963_966delinsTGTG
XR_924208.2:n.963_966delinsTGTG