Canonical Allele Identifier: CA2658337606

Gene: EIF2B4

Linked Data

• gnomAD v4: 2-27367549-GAGTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367552_27367555del , CM000664.2:g.27367552_27367555del	GRCh38
NC_000002.11:g.27590419_27590422del , CM000664.1:g.27590419_27590422del	GRCh37
NC_000002.10:g.27443923_27443926del	NCBI36
NG_009305.1:g.7905_7908del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.789_792del MANE Select	ENSP00000233552.6:p.Thr264SerfsTer?
ENST00000347454.8:c.789_792del	ENSP00000233552.5:p.Thr264SerfsTer?
ENST00000405940.6:c.*55_*58del	ENSP00000384375.2:n.*55_*58del
ENST00000417567.1:c.365_368del
ENST00000445933.6:c.786_789del	ENSP00000394397.2:p.Thr263SerfsTer?
ENST00000451130.6:c.849_852del	ENSP00000394869.2:p.Thr284SerfsTer?
ENST00000475582.5:n.2298_2301del
ENST00000493344.6:c.852_855del	ENSP00000429323.1:p.Thr285SerfsTer?
ENST00000616081.4:c.780_783del	ENSP00000477710.1:p.Thr261SerfsTer?
ENST00000622434.4:c.*55_*58del	ENSP00000479991.1:n.*55_*58del
NM_001034116.1:c.789_792del	NP_001029288.1:p.Thr264SerfsTer?
NM_015636.3:c.786_789del	NP_056451.3:p.Thr263SerfsTer?
NM_172195.3:c.849_852del	NP_751945.2:p.Thr284SerfsTer?
XM_005264632.1:c.744_747del	XP_005264689.1:p.Thr249SerfsTer?
XM_006712132.1:c.741_744del	XP_006712195.1:p.Thr248SerfsTer?
XM_011533147.1:c.171_174del	XP_011531449.1:p.Thr58SerfsTer?
NM_001318965.1:c.852_855del	NP_001305894.1:p.Thr285SerfsTer?
NM_001318966.1:c.744_747del	NP_001305895.1:p.Thr249SerfsTer?
NM_001318967.1:c.696_699del	NP_001305896.1:p.Thr233SerfsTer?
NM_001318968.1:c.204_207del	NP_001305897.1:p.Thr69SerfsTer?
NM_001318969.1:c.171_174del	NP_001305898.1:p.Thr58SerfsTer?
XM_011533147.2:c.171_174del	XP_011531449.1:p.Thr58SerfsTer?
NM_001034116.2:c.789_792del MANE Select	NP_001029288.1:p.Thr264SerfsTer?
NM_001318965.2:c.852_855del	NP_001305894.1:p.Thr285SerfsTer?
NM_001318966.2:c.744_747del	NP_001305895.1:p.Thr249SerfsTer?
NM_001318967.2:c.696_699del	NP_001305896.1:p.Thr233SerfsTer?
NM_001318968.2:c.204_207del	NP_001305897.1:p.Thr69SerfsTer?
NM_001318969.2:c.171_174del	NP_001305898.1:p.Thr58SerfsTer?
NM_015636.4:c.786_789del	NP_056451.3:p.Thr263SerfsTer?
NM_172195.4:c.849_852del	NP_751945.2:p.Thr284SerfsTer?