Canonical Allele Identifier: CA1240246004

Gene: EIF2B4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367967_27367968delinsTG , CM000664.2:g.27367967_27367968delinsTG	GRCh38
NC_000002.11:g.27590834_27590835delinsTG , CM000664.1:g.27590834_27590835delinsTG	GRCh37
NC_000002.10:g.27444338_27444339delinsTG	NCBI36
NG_009305.1:g.7490_7491delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.705+57_705+58delinsCA MANE Select	ENSP00000233552.6:n.705+57_705+58delinsCA
ENST00000347454.8:c.705+57_705+58delinsCA	ENSP00000233552.5:n.705+57_705+58delinsCA
ENST00000405940.6:c.679+57_679+58delinsCA	ENSP00000384375.2:n.679+57_679+58delinsCA
ENST00000417567.1:c.281+57_281+58delinsCA
ENST00000445933.6:c.702+57_702+58delinsCA	ENSP00000394397.2:n.702+57_702+58delinsCA
ENST00000451130.6:c.765+57_765+58delinsCA	ENSP00000394869.2:n.765+57_765+58delinsCA
ENST00000475582.5:n.1883_1884delinsCA
ENST00000493344.6:c.768+57_768+58delinsCA	ENSP00000429323.1:n.768+57_768+58delinsCA
ENST00000616081.4:c.696+57_696+58delinsCA	ENSP00000477710.1:n.696+57_696+58delinsCA
ENST00000622434.4:c.660+57_660+58delinsCA	ENSP00000479991.1:n.660+57_660+58delinsCA
NM_001034116.1:c.705+57_705+58delinsCA	NP_001029288.1:n.705+57_705+58delinsCA
NM_015636.3:c.702+57_702+58delinsCA	NP_056451.3:n.702+57_702+58delinsCA
NM_172195.3:c.765+57_765+58delinsCA	NP_751945.2:n.765+57_765+58delinsCA
XM_005264632.1:c.660+57_660+58delinsCA	XP_005264689.1:n.660+57_660+58delinsCA
XM_006712132.1:c.657+57_657+58delinsCA	XP_006712195.1:n.657+57_657+58delinsCA
XM_011533147.1:c.87+57_87+58delinsCA	XP_011531449.1:n.87+57_87+58delinsCA
NM_001318965.1:c.768+57_768+58delinsCA	NP_001305894.1:n.768+57_768+58delinsCA
NM_001318966.1:c.660+57_660+58delinsCA	NP_001305895.1:n.660+57_660+58delinsCA
NM_001318967.1:c.612+57_612+58delinsCA	NP_001305896.1:n.612+57_612+58delinsCA
NM_001318968.1:c.120+57_120+58delinsCA	NP_001305897.1:n.120+57_120+58delinsCA
NM_001318969.1:c.87+57_87+58delinsCA	NP_001305898.1:n.87+57_87+58delinsCA
XM_011533147.2:c.87+57_87+58delinsCA	XP_011531449.1:n.87+57_87+58delinsCA
NM_001034116.2:c.705+57_705+58delinsCA MANE Select	NP_001029288.1:n.705+57_705+58delinsCA
NM_001318965.2:c.768+57_768+58delinsCA	NP_001305894.1:n.768+57_768+58delinsCA
NM_001318966.2:c.660+57_660+58delinsCA	NP_001305895.1:n.660+57_660+58delinsCA
NM_001318967.2:c.612+57_612+58delinsCA	NP_001305896.1:n.612+57_612+58delinsCA
NM_001318968.2:c.120+57_120+58delinsCA	NP_001305897.1:n.120+57_120+58delinsCA
NM_001318969.2:c.87+57_87+58delinsCA	NP_001305898.1:n.87+57_87+58delinsCA
NM_015636.4:c.702+57_702+58delinsCA	NP_056451.3:n.702+57_702+58delinsCA
NM_172195.4:c.765+57_765+58delinsCA	NP_751945.2:n.765+57_765+58delinsCA