Canonical Allele Identifier: CA645539330

Gene: EIF2B4

Linked Data

• COSMIC: COSM5347473 ; COSM5347474

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367775_27367799del , CM000664.2:g.27367775_27367799del	GRCh38
NC_000002.11:g.27590642_27590666del , CM000664.1:g.27590642_27590666del	GRCh37
NC_000002.10:g.27444146_27444170del	NCBI36
NG_009305.1:g.7659_7683del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.729_753del MANE Select	ENSP00000233552.6:p.Pro244Ter
ENST00000347454.8:c.729_753del	ENSP00000233552.5:p.Pro244Ter
ENST00000405940.6:c.703_*19del	ENSP00000384375.2:n.[c.703_*19del;Ala235LeufsTer?]
ENST00000417567.1:c.305_329del
ENST00000445933.6:c.726_750del	ENSP00000394397.2:p.Pro243Ter
ENST00000451130.6:c.789_813del	ENSP00000394869.2:p.Pro264Ter
ENST00000475582.5:n.2052_2076del
ENST00000493344.6:c.792_816del	ENSP00000429323.1:p.Pro265Ter
ENST00000616081.4:c.720_744del	ENSP00000477710.1:p.Pro241Ter
ENST00000622434.4:c.682_*19del	ENSP00000479991.1:n.[c.682_*19del;Ala228LeufsTer?]
NM_001034116.1:c.729_753del	NP_001029288.1:p.Pro244Ter
NM_015636.3:c.726_750del	NP_056451.3:p.Pro243Ter
NM_172195.3:c.789_813del	NP_751945.2:p.Pro264Ter
XM_005264632.1:c.684_708del	XP_005264689.1:p.Pro229Ter
XM_006712132.1:c.681_705del	XP_006712195.1:p.Pro228Ter
XM_011533147.1:c.111_135del	XP_011531449.1:p.Pro38Ter
NM_001318965.1:c.792_816del	NP_001305894.1:p.Pro265Ter
NM_001318966.1:c.684_708del	NP_001305895.1:p.Pro229Ter
NM_001318967.1:c.636_660del	NP_001305896.1:p.Pro213Ter
NM_001318968.1:c.144_168del	NP_001305897.1:p.Pro49Ter
NM_001318969.1:c.111_135del	NP_001305898.1:p.Pro38Ter
XM_011533147.2:c.111_135del	XP_011531449.1:p.Pro38Ter
NM_001034116.2:c.729_753del MANE Select	NP_001029288.1:p.Pro244Ter
NM_001318965.2:c.792_816del	NP_001305894.1:p.Pro265Ter
NM_001318966.2:c.684_708del	NP_001305895.1:p.Pro229Ter
NM_001318967.2:c.636_660del	NP_001305896.1:p.Pro213Ter
NM_001318968.2:c.144_168del	NP_001305897.1:p.Pro49Ter
NM_001318969.2:c.111_135del	NP_001305898.1:p.Pro38Ter
NM_015636.4:c.726_750del	NP_056451.3:p.Pro243Ter
NM_172195.4:c.789_813del	NP_751945.2:p.Pro264Ter